| commit df4bbec30a36ad0ab0af6d3588a36df3686578ff
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| Author: davidlagorce <david.lagorce@inserm.fr>
|
| Date: Sun Oct 3 10:11:04 2021 +0200
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|
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| OCT 2021
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| diff --git for en_product1.xml between September 2021 and October 2021
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| old mode 100755
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| new mode 100644
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| index 38c288a..6d8e781
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| a/Rare | b/Rare |
|---|
| ⋮ | ⋮ |
| 1 | <?xml·version="1.0"·encoding="ISO-8859-1"?> | 1 | <?xml·version="1.0"·encoding="ISO-8859-1"?> |
| 2 | <JDBOR·date="2021-09-01·04:35:34"·version="1.3.7·/·4.1.7·[2020-12-03]·(orientdb·version)"·copyright="Orphanet·(c)·2021"·dbserver="jdbc:sybase:Tds:canard.orpha.net:2020"> | 2 | <JDBOR·date="2021-10-01·04:35:49"·version="1.3.7·/·4.1.7·[2020-12-03]·(orientdb·version)"·copyright="Orphanet·(c)·2021"·dbserver="jdbc:sybase:Tds:canard.orpha.net:2020"> |
| 3 | ··<Availability>· | 3 | ··<Availability>· |
| 4 | ····<Licence> | 4 | ····<Licence> |
| 5 | ······<FullName·lang="en">Creative·Commons·Attribution·4.0·International</FullName> | 5 | ······<FullName·lang="en">Creative·Commons·Attribution·4.0·International</FullName> |
| ⋮ | ⋮ |
| 7 | ······<LegalCode>https://creativecommons.org/licenses/by/4.0/legalcode</LegalCode> | 7 | ······<LegalCode>https://creativecommons.org/licenses/by/4.0/legalcode</LegalCode> |
| 8 | ····</Licence> | 8 | ····</Licence> |
| 9 | ··</Availability> | 9 | ··</Availability> |
| 10 | ··<DisorderList·count="10572"> | 10 | ··<DisorderList·count="10583"> |
| 11 | ····<Disorder·id="17601"> | 11 | ····<Disorder·id="17601"> |
| 12 | ······<OrphaCode>166024</OrphaCode> | 12 | ······<OrphaCode>166024</OrphaCode> |
| 13 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166024</ExpertLink> | 13 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166024</ExpertLink> |
| ⋮ | ⋮ |
| 669 | ··············<TextSectionType·id="16907"> | 669 | ··············<TextSectionType·id="16907"> |
| 670 | ················<Name·lang="en">Definition</Name> | 670 | ················<Name·lang="en">Definition</Name> |
| 671 | ··············</TextSectionType> | 671 | ··············</TextSectionType> |
| 672 | ··············<Contents>Brachydactyly-short·stature-retinitis·pigmentosa·syndrome·is·a·rare,·genetic,·congenital·limb·malformation·syndrome·characterized·by·mild·to·severe·short·stature,·brachydactyly,·and·retinal·degeneration·(usually·retinitis·pigmentosa),·associated·with·variable·intellectual·disability,·develomental·delays,·and·craniofacial·anomalies.</Contents> | 672 | ··············<Contents>Brachydactyly-short·stature-retinitis·pigmentosa·syndrome·is·a·rare,·genetic,·congenital·limb·malformation·syndrome·characterized·by·mild·to·severe·short·stature,·brachydactyly,·and·retinal·degeneration·(usually·retinitis·pigmentosa),·associated·with·variable·intellectual·disability,·developmental·delays,·and·craniofacial·anomalies.</Contents> |
| 673 | ············</TextSection> | 673 | ············</TextSection> |
| 674 | ··········</TextSectionList> | 674 | ··········</TextSectionList> |
| 675 | ········</SummaryInformation> | 675 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 1293 | ······</ExternalReferenceList> | 1293 | ······</ExternalReferenceList> |
| 1294 | ······<DisorderDisorderAssociationList·count="0"> | 1294 | ······<DisorderDisorderAssociationList·count="0"> |
| 1295 | ······</DisorderDisorderAssociationList> | 1295 | ······</DisorderDisorderAssociationList> |
| 1296 | ······<SummaryInformationList·count="1"> | 1296 | ······<SummaryInformationList·count="0"> |
| 1297 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 1298 | ··········<TextSectionList·count="0"> | |
| 1299 | ··········</TextSectionList> | |
| 1300 | ··········<TextAuto> | |
| 1301 | ············<Info·lang="en">This·disease·is·not·rare·in·Europe.·It·does·not·belong·to·the·Orphanet·nomenclature·of·rare·diseases.</Info> | |
| 1302 | ··········</TextAuto> | |
| 1303 | ········</SummaryInformation> | |
| 1304 | ······</SummaryInformationList> | 1297 | ······</SummaryInformationList> |
| 1305 | ····</Disorder> | 1298 | ····</Disorder> |
| 1306 | ····<Disorder·id="17610"> | 1299 | ····<Disorder·id="17610"> |
| ⋮ | ⋮ |
| 1587 | ··············<TextSectionType·id="16907"> | 1580 | ··············<TextSectionType·id="16907"> |
| 1588 | ················<Name·lang="en">Definition</Name> | 1581 | ················<Name·lang="en">Definition</Name> |
| 1589 | ··············</TextSectionType> | 1582 | ··············</TextSectionType> |
| 1590 | ··············<Contents>A·subtype·of·type·2·von·Willebrand·disease·characterized·by·a·bleeding·disorder·associated·with·a·decrease·in·the·affinity·of·the·Willebrand·factor·(VWF)·for·platelets·and·the·subendothelium·caused·by·a·deficiency·of·high·molecular·weight·VWF·multimers.·The·disease·manifests·as·mucocutaneous·bleeding·(menorrhagia,·epistaxis,·gastrointestinal·hemorrhage·etc.).</Contents> | 1583 | ··············<Contents>A·subtype·of·type·2·von·Willebrand·disease·characterized·by·a·bleeding·disorder·associated·with·a·decrease·in·the·affinity·of·the·Willebrand·factor·(VWF)·for·platelets·and·the·subendothelium·caused·by·a·deficiency·of·high·molecular·weight·VWF·multimers.·The·disease·manifests·as·mucocutaneous·bleeding·(menorrhagia,·epistaxis,·gastrointestinal·hemorrhage,·etc.).</Contents> |
| 1591 | ············</TextSection> | 1584 | ············</TextSection> |
| 1592 | ··········</TextSectionList> | 1585 | ··········</TextSectionList> |
| 1593 | ········</SummaryInformation> | 1586 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 2130 | ··············<TextSectionType·id="16907"> | 2123 | ··············<TextSectionType·id="16907"> |
| 2131 | ················<Name·lang="en">Definition</Name> | 2124 | ················<Name·lang="en">Definition</Name> |
| 2132 | ··············</TextSectionType> | 2125 | ··············</TextSectionType> |
| 2133 | ··············<Contents>A·subtype·of·type·2·von·Willebrand·disease·characterized·by·a·bleeding·disorder·associated·with·increased·affinity·of·the·Willebrand·factor·(VWF)·for·platelets·leading·to·rapid·clearance·of·both·the·platelets·(increasing·the·risk·of·thrombocytopenia)·and·VWF·from·the·plasma.·The·disease·manifests·as·mucocutaneous·bleeding·(menorrhagia,·epistaxis,·gastrointestinal·hemorrhage·etc.).</Contents> | 2126 | ··············<Contents>A·subtype·of·type·2·von·Willebrand·disease·characterized·by·a·bleeding·disorder·associated·with·increased·affinity·of·the·Willebrand·factor·(VWF)·for·platelets·leading·to·rapid·clearance·of·both·the·platelets·(increasing·the·risk·of·thrombocytopenia)·and·VWF·from·the·plasma.·The·disease·manifests·as·mucocutaneous·bleeding·(menorrhagia,·epistaxis,·gastrointestinal·hemorrhage,·etc.).</Contents> |
| 2134 | ············</TextSection> | 2127 | ············</TextSection> |
| 2135 | ··········</TextSectionList> | 2128 | ··········</TextSectionList> |
| 2136 | ········</SummaryInformation> | 2129 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 5721 | ······</ExternalReferenceList> | 5714 | ······</ExternalReferenceList> |
| 5722 | ······<DisorderDisorderAssociationList·count="0"> | 5715 | ······<DisorderDisorderAssociationList·count="0"> |
| 5723 | ······</DisorderDisorderAssociationList> | 5716 | ······</DisorderDisorderAssociationList> |
| 5724 | ······<SummaryInformationList·count="1"> | 5717 | ······<SummaryInformationList·count="0"> |
| 5725 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 5726 | ··········<TextSectionList·count="0"> | |
| 5727 | ··········</TextSectionList> | |
| 5728 | ··········<TextAuto> | |
| 5729 | ············<Info·lang="en">This·disease·is·not·rare·in·Europe.·It·does·not·belong·to·the·Orphanet·nomenclature·of·rare·diseases.</Info> | |
| 5730 | ··········</TextAuto> | |
| 5731 | ········</SummaryInformation> | |
| 5732 | ······</SummaryInformationList> | 5718 | ······</SummaryInformationList> |
| 5733 | ····</Disorder> | 5719 | ····</Disorder> |
| 5734 | ····<Disorder·id="17642"> | 5720 | ····<Disorder·id="17642"> |
| ⋮ | ⋮ |
| 10209 | ··············<TextSectionType·id="16907"> | 10195 | ··············<TextSectionType·id="16907"> |
| 10210 | ················<Name·lang="en">Definition</Name> | 10196 | ················<Name·lang="en">Definition</Name> |
| 10211 | ··············</TextSectionType> | 10197 | ··············</TextSectionType> |
| 10212 | ··············<Contents>A·rare,·X-linked,·syndromic·intellectual·disability·disease·characterized·by·neonatal·hypertonia·which·evolves·to·hypotonia·and·an·exaggerated·startle·response·(to·sudden·visual,·auditory·or·tactile·stimuli),·followed·by·the·development·of·early-onset,·frequently·refractory,·tonic·or·myoclonic·seizures.·Progressive·epileptic·encephalopathy,·intellectual·disability,·and·psychomotor·development·arrest,·with·subsecuent·decline,·may·be·additionally·associated.</Contents> | 10198 | ··············<Contents>A·rare,·X-linked,·syndromic·intellectual·disability·disease·characterized·by·neonatal·hypertonia·which·evolves·to·hypotonia·and·an·exaggerated·startle·response·(to·sudden·visual,·auditory·or·tactile·stimuli),·followed·by·the·development·of·early-onset,·frequently·refractory,·tonic·or·myoclonic·seizures.·Progressive·epileptic·encephalopathy,·intellectual·disability,·and·psychomotor·development·arrest,·with·subsequent·decline,·may·be·additionally·associated.</Contents> |
| 10213 | ············</TextSection> | 10199 | ············</TextSection> |
| 10214 | ··········</TextSectionList> | 10200 | ··········</TextSectionList> |
| 10215 | ········</SummaryInformation> | 10201 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 11089 | ······</ExternalReferenceList> | 11075 | ······</ExternalReferenceList> |
| 11090 | ······<DisorderDisorderAssociationList·count="0"> | 11076 | ······<DisorderDisorderAssociationList·count="0"> |
| 11091 | ······</DisorderDisorderAssociationList> | 11077 | ······</DisorderDisorderAssociationList> |
| 11092 | ······<SummaryInformationList·count="1"> | 11078 | ······<SummaryInformationList·count="0"> |
| 11093 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 11094 | ··········<TextSectionList·count="0"> | |
| 11095 | ··········</TextSectionList> | |
| 11096 | ··········<TextAuto> | |
| 11097 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 11098 | ··········</TextAuto> | |
| 11099 | ········</SummaryInformation> | |
| 11100 | ······</SummaryInformationList> | 11079 | ······</SummaryInformationList> |
| 11101 | ····</Disorder> | 11080 | ····</Disorder> |
| 11102 | ····<Disorder·id="97"> | 11081 | ····<Disorder·id="97"> |
| ⋮ | ⋮ |
| 21929 | ··········</DisorderMappingValidationStatus> | 21908 | ··········</DisorderMappingValidationStatus> |
| 21930 | ········</ExternalReference> | 21909 | ········</ExternalReference> |
| 21931 | ······</ExternalReferenceList> | 21910 | ······</ExternalReferenceList> |
| 21932 | ······<DisorderDisorderAssociationList·count="0"> | 21911 | ······<DisorderDisorderAssociationList·count="1"> |
| | 21912 | ········<DisorderDisorderAssociation> |
| | 21913 | ··········<TargetDisorder·id="220"·cycle="true"/> |
| | 21914 | ··········<RootDisorder·id="22112"> |
| | 21915 | ············<OrphaCode>352740</OrphaCode> |
| | 21916 | ············<Name·lang="en">Ocular·albinism·with·congenital·sensorineural·deafness</Name> |
| | 21917 | ··········</RootDisorder> |
| | 21918 | ··········<DisorderDisorderAssociationType·id="21471"> |
| | 21919 | ············<Name·lang="en">Moved·to</Name> |
| | 21920 | ··········</DisorderDisorderAssociationType> |
| | 21921 | ········</DisorderDisorderAssociation> |
| 21933 | ······</DisorderDisorderAssociationList> | 21922 | ······</DisorderDisorderAssociationList> |
| 21934 | ······<SummaryInformationList·count="1"> | 21923 | ······<SummaryInformationList·count="1"> |
| 21935 | ········<SummaryInformation·id="90684"·lang="en"> | 21924 | ········<SummaryInformation·id="90684"·lang="en"> |
| ⋮ | ⋮ |
| 22559 | ····<Disorder·id="209"> | 22548 | ····<Disorder·id="209"> |
| 22560 | ······<OrphaCode>628</OrphaCode> | 22549 | ······<OrphaCode>628</OrphaCode> |
| 22561 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=628</ExpertLink> | 22550 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=628</ExpertLink> |
| 22562 | ······<Name·lang="en">Diastrophic·dwarfism</Name> | 22551 | ······<Name·lang="en">Diastrophic·dysplasia</Name> |
| 22563 | ······<DisorderFlagList·count="1"> | 22552 | ······<DisorderFlagList·count="1"> |
| 22564 | ········<DisorderFlag·id="475"> | 22553 | ········<DisorderFlag·id="475"> |
| 22565 | ··········<Value>1</Value> | 22554 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 22567 | ········</DisorderFlag> | 22556 | ········</DisorderFlag> |
| 22568 | ······</DisorderFlagList> | 22557 | ······</DisorderFlagList> |
| 22569 | ······<SynonymList·count="1"> | 22558 | ······<SynonymList·count="1"> |
| 22570 | ········<Synonym·lang="en">Diastrophic·dysplasia</Synonym> | 22559 | ········<Synonym·lang="en">Diastrophic·dwarfism</Synonym> |
| 22571 | ······</SynonymList> | 22560 | ······</SynonymList> |
| 22572 | ······<DisorderType·id="21394"> | 22561 | ······<DisorderType·id="21394"> |
| 22573 | ········<Name·lang="en">Disease</Name> | 22562 | ········<Name·lang="en">Disease</Name> |
| ⋮ | ⋮ |
| 25354 | ······</ExternalReferenceList> | 25343 | ······</ExternalReferenceList> |
| 25355 | ······<DisorderDisorderAssociationList·count="0"> | 25344 | ······<DisorderDisorderAssociationList·count="0"> |
| 25356 | ······</DisorderDisorderAssociationList> | 25345 | ······</DisorderDisorderAssociationList> |
| 25357 | ······<SummaryInformationList·count="1"> | 25346 | ······<SummaryInformationList·count="0"> |
| 25358 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 25359 | ··········<TextSectionList·count="0"> | |
| 25360 | ··········</TextSectionList> | |
| 25361 | ··········<TextAuto> | |
| 25362 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 25363 | ··········</TextAuto> | |
| 25364 | ········</SummaryInformation> | |
| 25365 | ······</SummaryInformationList> | 25347 | ······</SummaryInformationList> |
| 25366 | ····</Disorder> | 25348 | ····</Disorder> |
| 25367 | ····<Disorder·id="17874"> | 25349 | ····<Disorder·id="17874"> |
| ⋮ | ⋮ |
| 30158 | ··············<TextSectionType·id="16907"> | 30140 | ··············<TextSectionType·id="16907"> |
| 30159 | ················<Name·lang="en">Definition</Name> | 30141 | ················<Name·lang="en">Definition</Name> |
| 30160 | ··············</TextSectionType> | 30142 | ··············</TextSectionType> |
| 30161 | ··············<Contents>Unverricht-Lundborg·disease·(ULD)·is·a·rare·progressive·myoclonic·epilepsy·disorder·characterized·by·action-·and·stimulus-sensitive·myoclonus,·and·tonic-clonic·seizures·with·ataxia,·but·with·only·a·mild·cognitive·decline·over·time.</Contents> | 30143 | ··············<Contents>A·rare·progressive·myoclonic·epilepsy·(PME)·disorder·characterized·by·action-·and·stimulus-sensitive·myoclonus,·and·tonic-clonic·seizures·with·ataxia,·but·with·only·a·mild·cognitive·decline·over·time.</Contents> |
| 30162 | ············</TextSection> | 30144 | ············</TextSection> |
| 30163 | ··········</TextSectionList> | 30145 | ··········</TextSectionList> |
| 30164 | ········</SummaryInformation> | 30146 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 30486 | ··············<TextSectionType·id="16907"> | 30468 | ··············<TextSectionType·id="16907"> |
| 30487 | ················<Name·lang="en">Definition</Name> | 30469 | ················<Name·lang="en">Definition</Name> |
| 30488 | ··············</TextSectionType> | 30470 | ··············</TextSectionType> |
| 30489 | ··············<Contents>Cornelia·de·Lange·syndrome·(CdLS)·is·a·multisystem·disorder·with·variable·expression·marked·by·a·characteristic·facial·dysmorphism,·variable·degrees·of·intellectual·deficit,·severe·growth·retardation·beginning·before·birth·(2nd·trimester),·abnormal·hands·and·feet·(oligodactyly,·or·sometimes·an·even·more·severe·amputation,·and·constant·brachymetacarpia·of·the·first·metacarpus),·and·various·other·malformations·(heart,·kidney·<i>etc.</i>).</Contents> | 30471 | ··············<Contents>A·rare·multiple·congenital·anomalies·syndrome·characterized·by·facial·dysmorphism,·hypertrichosis,·mild·to·profound·intellectual·disability,·intrauterine·growth·restriction·(IUGR)·and/or·postnatal·growth·restriction,·feeding·difficulties,·abnormalities·of·the·hands·and·feet·(ranging·from·severe·reductional·limb·abnormalities,·oligodactyly,·to·brachymetacarpia·of·the·first·metacarpus).·Variable·visceral·malformations·may·be·present.</Contents> |
| 30490 | ············</TextSection> | 30472 | ············</TextSection> |
| 30491 | ··········</TextSectionList> | 30473 | ··········</TextSectionList> |
| 30492 | ········</SummaryInformation> | 30474 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 39841 | ······</ExternalReferenceList> | 39823 | ······</ExternalReferenceList> |
| 39842 | ······<DisorderDisorderAssociationList·count="0"> | 39824 | ······<DisorderDisorderAssociationList·count="0"> |
| 39843 | ······</DisorderDisorderAssociationList> | 39825 | ······</DisorderDisorderAssociationList> |
| 39844 | ······<SummaryInformationList·count="1"> | 39826 | ······<SummaryInformationList·count="0"> |
| 39845 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 39846 | ··········<TextSectionList·count="0"> | |
| 39847 | ··········</TextSectionList> | |
| 39848 | ··········<TextAuto> | |
| 39849 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 39850 | ··········</TextAuto> | |
| 39851 | ········</SummaryInformation> | |
| 39852 | ······</SummaryInformationList> | 39827 | ······</SummaryInformationList> |
| 39853 | ····</Disorder> | 39828 | ····</Disorder> |
| 39854 | ····<Disorder·id="446"> | 39829 | ····<Disorder·id="446"> |
| ⋮ | ⋮ |
| 44785 | ······</ExternalReferenceList> | 44760 | ······</ExternalReferenceList> |
| 44786 | ······<DisorderDisorderAssociationList·count="0"> | 44761 | ······<DisorderDisorderAssociationList·count="0"> |
| 44787 | ······</DisorderDisorderAssociationList> | 44762 | ······</DisorderDisorderAssociationList> |
| 44788 | ······<SummaryInformationList·count="1"> | 44763 | ······<SummaryInformationList·count="0"> |
| 44789 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 44790 | ··········<TextSectionList·count="0"> | |
| 44791 | ··········</TextSectionList> | |
| 44792 | ··········<TextAuto> | |
| 44793 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 44794 | ··········</TextAuto> | |
| 44795 | ········</SummaryInformation> | |
| 44796 | ······</SummaryInformationList> | 44764 | ······</SummaryInformationList> |
| 44797 | ····</Disorder> | 44765 | ····</Disorder> |
| 44798 | ····<Disorder·id="17682"> | 44766 | ····<Disorder·id="17682"> |
| ⋮ | ⋮ |
| 45675 | ······</ExternalReferenceList> | 45643 | ······</ExternalReferenceList> |
| 45676 | ······<DisorderDisorderAssociationList·count="0"> | 45644 | ······<DisorderDisorderAssociationList·count="0"> |
| 45677 | ······</DisorderDisorderAssociationList> | 45645 | ······</DisorderDisorderAssociationList> |
| 45678 | ······<SummaryInformationList·count="1"> | 45646 | ······<SummaryInformationList·count="0"> |
| 45679 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 45680 | ··········<TextSectionList·count="0"> | |
| 45681 | ··········</TextSectionList> | |
| 45682 | ··········<TextAuto> | |
| 45683 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 45684 | ··········</TextAuto> | |
| 45685 | ········</SummaryInformation> | |
| 45686 | ······</SummaryInformationList> | 45647 | ······</SummaryInformationList> |
| 45687 | ····</Disorder> | 45648 | ····</Disorder> |
| 45688 | ····<Disorder·id="457"> | 45649 | ····<Disorder·id="457"> |
| ⋮ | ⋮ |
| 49672 | ······</ExternalReferenceList> | 49633 | ······</ExternalReferenceList> |
| 49673 | ······<DisorderDisorderAssociationList·count="0"> | 49634 | ······<DisorderDisorderAssociationList·count="0"> |
| 49674 | ······</DisorderDisorderAssociationList> | 49635 | ······</DisorderDisorderAssociationList> |
| 49675 | ······<SummaryInformationList·count="1"> | 49636 | ······<SummaryInformationList·count="0"> |
| 49676 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 49677 | ··········<TextSectionList·count="0"> | |
| 49678 | ··········</TextSectionList> | |
| 49679 | ··········<TextAuto> | |
| 49680 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 49681 | ··········</TextAuto> | |
| 49682 | ········</SummaryInformation> | |
| 49683 | ······</SummaryInformationList> | 49637 | ······</SummaryInformationList> |
| 49684 | ····</Disorder> | 49638 | ····</Disorder> |
| 49685 | ····<Disorder·id="18155"> | 49639 | ····<Disorder·id="18155"> |
| ⋮ | ⋮ |
| 50684 | ······</ExternalReferenceList> | 50638 | ······</ExternalReferenceList> |
| 50685 | ······<DisorderDisorderAssociationList·count="0"> | 50639 | ······<DisorderDisorderAssociationList·count="0"> |
| 50686 | ······</DisorderDisorderAssociationList> | 50640 | ······</DisorderDisorderAssociationList> |
| 50687 | ······<SummaryInformationList·count="1"> | 50641 | ······<SummaryInformationList·count="0"> |
| 50688 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 50689 | ··········<TextSectionList·count="0"> | |
| 50690 | ··········</TextSectionList> | |
| 50691 | ··········<TextAuto> | |
| 50692 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 50693 | ··········</TextAuto> | |
| 50694 | ········</SummaryInformation> | |
| 50695 | ······</SummaryInformationList> | 50642 | ······</SummaryInformationList> |
| 50696 | ····</Disorder> | 50643 | ····</Disorder> |
| 50697 | ····<Disorder·id="560"> | 50644 | ····<Disorder·id="560"> |
| ⋮ | ⋮ |
| 66449 | ··············<TextSectionType·id="16907"> | 66396 | ··············<TextSectionType·id="16907"> |
| 66450 | ················<Name·lang="en">Definition</Name> | 66397 | ················<Name·lang="en">Definition</Name> |
| 66451 | ··············</TextSectionType> | 66398 | ··············</TextSectionType> |
| 66452 | ··············<Contents>Hirschsprung·disease·(HSCR)·is·a·congenital·intestinal·motility·disorder·that·is·characterized·by·signs·of·intestinal·obstruction·due·to·the·presence·of·an·aganglionic·segment·of·variable·extent·in·the·terminal·part·of·the·colon.</Contents> | 66399 | ··············<Contents>A·rare·congenital·intestinal·motility·disorder·that·is·characterized·by·signs·of·intestinal·obstruction·due·to·the·presence·of·an·aganglionic·segment·of·variable·extent·in·the·terminal·part·of·the·colon.</Contents> |
| 66453 | ············</TextSection> | 66400 | ············</TextSection> |
| 66454 | ··········</TextSectionList> | 66401 | ··········</TextSectionList> |
| 66455 | ········</SummaryInformation> | 66402 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 69519 | ······</ExternalReferenceList> | 69466 | ······</ExternalReferenceList> |
| 69520 | ······<DisorderDisorderAssociationList·count="0"> | 69467 | ······<DisorderDisorderAssociationList·count="0"> |
| 69521 | ······</DisorderDisorderAssociationList> | 69468 | ······</DisorderDisorderAssociationList> |
| 69522 | ······<SummaryInformationList·count="1"> | 69469 | ······<SummaryInformationList·count="0"> |
| 69523 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 69524 | ··········<TextSectionList·count="0"> | |
| 69525 | ··········</TextSectionList> | |
| 69526 | ··········<TextAuto> | |
| 69527 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 69528 | ··········</TextAuto> | |
| 69529 | ········</SummaryInformation> | |
| 69530 | ······</SummaryInformationList> | 69470 | ······</SummaryInformationList> |
| 69531 | ····</Disorder> | 69471 | ····</Disorder> |
| 69532 | ····<Disorder·id="659"> | 69472 | ····<Disorder·id="659"> |
| ⋮ | ⋮ |
| 71756 | ······</ExternalReferenceList> | 71696 | ······</ExternalReferenceList> |
| 71757 | ······<DisorderDisorderAssociationList·count="0"> | 71697 | ······<DisorderDisorderAssociationList·count="0"> |
| 71758 | ······</DisorderDisorderAssociationList> | 71698 | ······</DisorderDisorderAssociationList> |
| 71759 | ······<SummaryInformationList·count="1"> | 71699 | ······<SummaryInformationList·count="0"> |
| 71760 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 71761 | ··········<TextSectionList·count="0"> | |
| 71762 | ··········</TextSectionList> | |
| 71763 | ··········<TextAuto> | |
| 71764 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 71765 | ··········</TextAuto> | |
| 71766 | ········</SummaryInformation> | |
| 71767 | ······</SummaryInformationList> | 71700 | ······</SummaryInformationList> |
| 71768 | ····</Disorder> | 71701 | ····</Disorder> |
| 71769 | ····<Disorder·id="738"> | 71702 | ····<Disorder·id="738"> |
| ⋮ | ⋮ |
| 72240 | ······</ExternalReferenceList> | 72173 | ······</ExternalReferenceList> |
| 72241 | ······<DisorderDisorderAssociationList·count="0"> | 72174 | ······<DisorderDisorderAssociationList·count="0"> |
| 72242 | ······</DisorderDisorderAssociationList> | 72175 | ······</DisorderDisorderAssociationList> |
| 72243 | ······<SummaryInformationList·count="1"> | 72176 | ······<SummaryInformationList·count="0"> |
| 72244 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 72245 | ··········<TextSectionList·count="0"> | |
| 72246 | ··········</TextSectionList> | |
| 72247 | ··········<TextAuto> | |
| 72248 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 72249 | ··········</TextAuto> | |
| 72250 | ········</SummaryInformation> | |
| 72251 | ······</SummaryInformationList> | 72177 | ······</SummaryInformationList> |
| 72252 | ····</Disorder> | 72178 | ····</Disorder> |
| 72253 | ····<Disorder·id="741"> | 72179 | ····<Disorder·id="741"> |
| ⋮ | ⋮ |
| 75644 | ··············<TextSectionType·id="16907"> | 75570 | ··············<TextSectionType·id="16907"> |
| 75645 | ················<Name·lang="en">Definition</Name> | 75571 | ················<Name·lang="en">Definition</Name> |
| 75646 | ··············</TextSectionType> | 75572 | ··············</TextSectionType> |
| 75647 | ··············<Contents>Renal·pseudohypoaldosteronism·type·1·(renal·PHA1)·is·a·mild·form·of·primary·mineralocorticoid·resistance·restricted·to·the·kidney.</Contents> | 75573 | ··············<Contents>A·form·of·pseudohypoaldosteronism·type·1·characterized·by·mild·mineralocorticoid·resistance·that·is·restricted·to·the·kidneys·and·that·usually·improves·in·early·childhood.·Typical·presentation·is·in·the·neonatal·period·with·weight·loss,·failure·to·thrive,·vomiting·and·dehydration·in·association·with·hyponatremia,·hyperkalemia·and·metabolic·acidosis·as·well·as·elevated·aldosterone·and·renin·levels.</Contents> |
| 75648 | ············</TextSection> | 75574 | ············</TextSection> |
| 75649 | ··········</TextSectionList> | 75575 | ··········</TextSectionList> |
| 75650 | ········</SummaryInformation> | 75576 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 76589 | ··············<TextSectionType·id="16907"> | 76515 | ··············<TextSectionType·id="16907"> |
| 76590 | ················<Name·lang="en">Definition</Name> | 76516 | ················<Name·lang="en">Definition</Name> |
| 76591 | ··············</TextSectionType> | 76517 | ··············</TextSectionType> |
| 76592 | ··············<Contents>Generalized·pseudohypoaldosteronism·type·1·(generalized·PHA1)·is·a·severe·form·of·primary·mineralocorticoid·resistance·with·systemic·involvement·and·salt·loss·in·multiple·organs.</Contents> | 76518 | ··············<Contents>A·severe·form·of·pseudohypoaldosteronism·type·1·characterized·by·salt·wasting·in·multiple·organs·including·the·kidney,·colon,·and·sweat·and·salivary·glands.·Presentation·is·in·the·first·few·weeks·of·life·with·severe·dehydration,·vomiting·and·failure·to·thrive·in·association·with·hyponatremia,·hyperkalemia·and·metabolic·acidosis·as·well·as·elevated·aldosterone·and·renin·levels.·No·remission·is·reported·and·patients·suffer·from·recurrent·life-threatening·episodes·of·salt·loss.</Contents> |
| 76593 | ············</TextSection> | 76519 | ············</TextSection> |
| 76594 | ··········</TextSectionList> | 76520 | ··········</TextSectionList> |
| 76595 | ········</SummaryInformation> | 76521 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 78598 | ··············<TextSectionType·id="16907"> | 78524 | ··············<TextSectionType·id="16907"> |
| 78599 | ················<Name·lang="en">Definition</Name> | 78525 | ················<Name·lang="en">Definition</Name> |
| 78600 | ··············</TextSectionType> | 78526 | ··············</TextSectionType> |
| 78601 | ··············<Contents>Immunodeficiency·with·factor·I·anomaly·is·a·rare,·genetic,·primary·immunodeficiency·disease·characterized·by·increased·susceptibility·to·recurrent,·usually·severe,·infections·(particularly·by·<i>Neisseria·meningitidis</i>,·<i>Haemophilus·influenzae</i>·and·<i>Streptococcus·pneumonia</i>),·typically·manifesting·as·otitis,·sinusitis,·bronchitis,·pneumonia,·and/or·meningitis.·Autoimmune·disease·(e.g.·systemic·lupus·erythematosus,·glomerulonephritis)·and·atypical·hemolytic·uremic·syndrome·may·be·associated.·Laboratory·serum·analysis·reveals,·in·addition·to·diminished·or·undetectable·complement·factor·I,·variably·decreased·complement·C3,·complement·factor·B·and·complement·factor·H.</Contents> | 78527 | ··············<Contents>Immunodeficiency·with·factor·I·anomaly·is·a·rare,·genetic,·primary·immunodeficiency·disease·characterized·by·increased·susceptibility·to·recurrent,·usually·severe,·infections·(particularly·by·<i>Neisseria·meningitidis</i>,·<i>Haemophilus·influenzae</i>·and·<i>Streptococcus·pneumoniae</i>),·typically·manifesting·as·otitis,·sinusitis,·bronchitis,·pneumonia,·and/or·meningitis.·Autoimmune·disease·(e.g.·systemic·lupus·erythematosus,·glomerulonephritis)·and·atypical·hemolytic·uremic·syndrome·may·be·associated.·Laboratory·serum·analysis·reveals,·in·addition·to·diminished·or·undetectable·complement·factor·I,·variably·decreased·complement·C3,·complement·factor·B·and·complement·factor·H.</Contents> |
| 78602 | ············</TextSection> | 78528 | ············</TextSection> |
| 78603 | ··········</TextSectionList> | 78529 | ··········</TextSectionList> |
| 78604 | ········</SummaryInformation> | 78530 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 78750 | ··············<TextSectionType·id="16907"> | 78676 | ··············<TextSectionType·id="16907"> |
| 78751 | ················<Name·lang="en">Definition</Name> | 78677 | ················<Name·lang="en">Definition</Name> |
| 78752 | ··············</TextSectionType> | 78678 | ··············</TextSectionType> |
| 78753 | ··············<Contents>Immunodeficiency·with·factor·H·anomaly·is·a·rare,·genetic,·primary·immunodeficiency·disease·characterized·by·increased·susceptibility·to·recurrent,·usually·severe,·infections·(particularly·by·<i>·Neisseria·meningitidis</i>,·<i>Escherichia·coli</i>,·and·<i>Haemophilus·influenzae</i>),·renal·impairment·and/or·autoimmune·diseases,·typically·manifesting·with·otitis·media,·bronchitis,·meningitis,·and/or·septicemia,·as·well·as·hematuria/proteinuria,·asthma,·nephrotic·syndrome,·hemolytic·uremic·syndrome,·glomerulonephritis,·and/or·systemic·lupus·erythematosus.·Laboratory·serum·analysis·reveals,·in·addition·to·factor·H·deficiency,·decreased·complement·factor·B,·properin,·complement·C3·and·terminal·complement·components.</Contents> | 78679 | ··············<Contents>Immunodeficiency·with·factor·H·anomaly·is·a·rare,·genetic,·primary·immunodeficiency·disease·characterized·by·increased·susceptibility·to·recurrent,·usually·severe,·infections·(particularly·by·<i>·Neisseria·meningitidis</i>,·<i>Escherichia·coli</i>,·and·<i>Haemophilus·influenzae</i>),·renal·impairment·and/or·autoimmune·diseases,·typically·manifesting·with·otitis·media,·bronchitis,·meningitis,·and/or·septicemia,·as·well·as·hematuria/proteinuria,·asthma,·nephrotic·syndrome,·hemolytic·uremic·syndrome,·glomerulonephritis,·and/or·systemic·lupus·erythematosus.·Laboratory·serum·analysis·reveals,·in·addition·to·factor·H·deficiency,·decreased·complement·factor·B,·properdin,·complement·C3·and·terminal·complement·components.</Contents> |
| 78754 | ············</TextSection> | 78680 | ············</TextSection> |
| 78755 | ··········</TextSectionList> | 78681 | ··········</TextSectionList> |
| 78756 | ········</SummaryInformation> | 78682 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 83701 | ··············<TextSectionType·id="16907"> | 83627 | ··············<TextSectionType·id="16907"> |
| 83702 | ················<Name·lang="en">Definition</Name> | 83628 | ················<Name·lang="en">Definition</Name> |
| 83703 | ··············</TextSectionType> | 83629 | ··············</TextSectionType> |
| 83704 | ··············<Contents>Bronchogenic·cysts·(BCs)·are·congenital·malformations·resulting·from·abnormal·budding·of·the·foregut·and·are·most·commonly·found·in·the·mediastinum.</Contents> | 83630 | ··············<Contents>Congenital·malformations·resulting·from·abnormal·budding·of·the·foregut·and·are·most·commonly·found·in·the·mediastinum.</Contents> |
| 83705 | ············</TextSection> | 83631 | ············</TextSection> |
| 83706 | ··········</TextSectionList> | 83632 | ··········</TextSectionList> |
| 83707 | ········</SummaryInformation> | 83633 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 92176 | ··············<TextSectionType·id="16907"> | 92102 | ··············<TextSectionType·id="16907"> |
| 92177 | ················<Name·lang="en">Definition</Name> | 92103 | ················<Name·lang="en">Definition</Name> |
| 92178 | ··············</TextSectionType> | 92104 | ··············</TextSectionType> |
| 92179 | ··············<Contents>A·malignant·hepatic·tumor,·typically·affecting·the·pediatric·population,·arising·mostly·in·an·otherwise·healthy·liver.·The·most·common·signs·are·addominal·distension·and·abdominal·mass.·Sometimes·patients·present·with·anorexia,·weight·loss,·fatigue.·Most·HBLs·are·sporadic,·but·some·cases·are·associated·with·genetic·factors,·especially·overgrowth·syndromes,·such·as·Beckwith-Wiedemann·syndrome·(BWS)·or·hemihypertrophy,·and·familial·adenomatous·polyposis·(FAP).</Contents> | 92105 | ··············<Contents>A·malignant·hepatic·tumor,·typically·affecting·the·pediatric·population,·arising·mostly·in·an·otherwise·healthy·liver.·The·most·common·signs·are·abdominal·distension·and·abdominal·mass.·Sometimes·patients·present·with·anorexia,·weight·loss,·fatigue.·Most·HBLs·are·sporadic,·but·some·cases·are·associated·with·genetic·factors,·especially·overgrowth·syndromes,·such·as·Beckwith-Wiedemann·syndrome·(BWS)·or·hemihypertrophy,·and·familial·adenomatous·polyposis·(FAP).</Contents> |
| 92180 | ············</TextSection> | 92106 | ············</TextSection> |
| 92181 | ··········</TextSectionList> | 92107 | ··········</TextSectionList> |
| 92182 | ········</SummaryInformation> | 92108 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 97433 | ··············<TextSectionType·id="16907"> | 97359 | ··············<TextSectionType·id="16907"> |
| 97434 | ················<Name·lang="en">Definition</Name> | 97360 | ················<Name·lang="en">Definition</Name> |
| 97435 | ··············</TextSectionType> | 97361 | ··············</TextSectionType> |
| 97436 | ··············<Contents>Familial·hyperaldosteronism·type·I·(FH-I)·is·a·rare·heritable,·glucocorticoid·remediable·form·of·primary·aldosteronism·(PA)·characterized·by·early-onset·hypertension,·hyperaldosteronism,·variable·hypokalemia,·low·plasma·renin·activity·(PRA),·and·abnormal·production·of·18-oxocortisol·and·18-hydroxycortisol.</Contents> | 97362 | ··············<Contents>A·rare·heritable,·glucocorticoid·remediable·form·of·primary·aldosteronism·(PA)·characterized·by·early-onset·hypertension,·hyperaldosteronism,·variable·hypokalemia,·low·plasma·renin·activity·(PRA),·and·abnormal·production·of·18-oxocortisol·and·18-hydroxycortisol.</Contents> |
| 97437 | ············</TextSection> | 97363 | ············</TextSection> |
| 97438 | ··········</TextSectionList> | 97364 | ··········</TextSectionList> |
| 97439 | ········</SummaryInformation> | 97365 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 97743 | ······</ExternalReferenceList> | 97669 | ······</ExternalReferenceList> |
| 97744 | ······<DisorderDisorderAssociationList·count="0"> | 97670 | ······<DisorderDisorderAssociationList·count="0"> |
| 97745 | ······</DisorderDisorderAssociationList> | 97671 | ······</DisorderDisorderAssociationList> |
| 97746 | ······<SummaryInformationList·count="1"> | 97672 | ······<SummaryInformationList·count="0"> |
| 97747 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 97748 | ··········<TextSectionList·count="0"> | |
| 97749 | ··········</TextSectionList> | |
| 97750 | ··········<TextAuto> | |
| 97751 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 97752 | ··········</TextAuto> | |
| 97753 | ········</SummaryInformation> | |
| 97754 | ······</SummaryInformationList> | 97673 | ······</SummaryInformationList> |
| 97755 | ····</Disorder> | 97674 | ····</Disorder> |
| 97756 | ····<Disorder·id="906"> | 97675 | ····<Disorder·id="906"> |
| ⋮ | ⋮ |
| 101942 | ······</ExternalReferenceList> | 101861 | ······</ExternalReferenceList> |
| 101943 | ······<DisorderDisorderAssociationList·count="0"> | 101862 | ······<DisorderDisorderAssociationList·count="0"> |
| 101944 | ······</DisorderDisorderAssociationList> | 101863 | ······</DisorderDisorderAssociationList> |
| 101945 | ······<SummaryInformationList·count="1"> | 101864 | ······<SummaryInformationList·count="0"> |
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| 101948 | ··········</TextSectionList> | |
| 101949 | ··········<TextAuto> | |
| 101950 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 101951 | ··········</TextAuto> | |
| 101952 | ········</SummaryInformation> | |
| 101953 | ······</SummaryInformationList> | 101865 | ······</SummaryInformationList> |
| 101954 | ····</Disorder> | 101866 | ····</Disorder> |
| 101955 | ····<Disorder·id="18202"> | 101867 | ····<Disorder·id="18202"> |
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| 102668 | ······</ExternalReferenceList> | 102580 | ······</ExternalReferenceList> |
| 102669 | ······<DisorderDisorderAssociationList·count="0"> | 102581 | ······<DisorderDisorderAssociationList·count="0"> |
| 102670 | ······</DisorderDisorderAssociationList> | 102582 | ······</DisorderDisorderAssociationList> |
| 102671 | ······<SummaryInformationList·count="1"> | 102583 | ······<SummaryInformationList·count="0"> |
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| 102674 | ··········</TextSectionList> | |
| 102675 | ··········<TextAuto> | |
| 102676 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 102677 | ··········</TextAuto> | |
| 102678 | ········</SummaryInformation> | |
| 102679 | ······</SummaryInformationList> | 102584 | ······</SummaryInformationList> |
| 102680 | ····</Disorder> | 102585 | ····</Disorder> |
| 102681 | ····<Disorder·id="18199"> | 102586 | ····<Disorder·id="18199"> |
| ⋮ | ⋮ |
| 104744 | ······</ExternalReferenceList> | 104649 | ······</ExternalReferenceList> |
| 104745 | ······<DisorderDisorderAssociationList·count="0"> | 104650 | ······<DisorderDisorderAssociationList·count="0"> |
| 104746 | ······</DisorderDisorderAssociationList> | 104651 | ······</DisorderDisorderAssociationList> |
| 104747 | ······<SummaryInformationList·count="1"> | 104652 | ······<SummaryInformationList·count="0"> |
| 104748 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 104749 | ··········<TextSectionList·count="0"> | |
| 104750 | ··········</TextSectionList> | |
| 104751 | ··········<TextAuto> | |
| 104752 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 104753 | ··········</TextAuto> | |
| 104754 | ········</SummaryInformation> | |
| 104755 | ······</SummaryInformationList> | 104653 | ······</SummaryInformationList> |
| 104756 | ····</Disorder> | 104654 | ····</Disorder> |
| 104757 | ····<Disorder·id="965"> | 104655 | ····<Disorder·id="965"> |
| ⋮ | ⋮ |
| 112368 | ··············<TextSectionType·id="16907"> | 112266 | ··············<TextSectionType·id="16907"> |
| 112369 | ················<Name·lang="en">Definition</Name> | 112267 | ················<Name·lang="en">Definition</Name> |
| 112370 | ··············</TextSectionType> | 112268 | ··············</TextSectionType> |
| 112371 | ··············<Contents>Short-limb·skeletal·dysplasia·with·severe·combined·immunodeficiency·is·an·extremely·rare·type·of·SCID·(see·this·term)·characterized·by·the·classical·signs·of·T-B-·SCID·(severe·and·recurrent·infections,·diarrhea,·failure·to·thrive,·absence·of·T·and·B·lymphocytes)·(see·this·term),·associated·with·skeletal·anomalies·like·short·stature,·bowing·of·the·long·bones·and·metaphyseal·abnormalities·of·variable·degree·of·severity.</Contents> | 112269 | ··············<Contents>An·extremely·rare·type·of·severe·combined·immunodeficiency·(SCID)·characterized·by·the·classical·signs·of·T-B-·SCID·(severe·and·recurrent·infections,·diarrhea,·failure·to·thrive,·absence·of·T·and·B·lymphocytes),·associated·with·skeletal·anomalies·like·short·stature,·bowing·of·the·long·bones·and·metaphyseal·abnormalities·of·variable·degree·of·severity.</Contents> |
| 112372 | ············</TextSection> | 112270 | ············</TextSection> |
| 112373 | ··········</TextSectionList> | 112271 | ··········</TextSectionList> |
| 112374 | ········</SummaryInformation> | 112272 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 116433 | ··········<Value>8192</Value> | 116331 | ··········<Value>8192</Value> |
| 116434 | ··········<Label>Inactive</Label> | 116332 | ··········<Label>Inactive</Label> |
| 116435 | ········</DisorderFlag> | 116333 | ········</DisorderFlag> |
| 116436 | ········<DisorderFlag·id="461"> | 116334 | ········<DisorderFlag·id="455"> |
| 116437 | ··········<Value>1024</Value> | 116335 | ··········<Value>16</Value> |
| 116438 | ··········<Label>Obsolete·with·resources</Label> | 116336 | ··········<Label>Obsolete·entity</Label> |
| 116439 | ········</DisorderFlag> | 116337 | ········</DisorderFlag> |
| 116440 | ······</DisorderFlagList> | 116338 | ······</DisorderFlagList> |
| 116441 | ······<SynonymList·count="0"> | 116339 | ······<SynonymList·count="0"> |
| ⋮ | ⋮ |
| 121329 | ··············<TextSectionType·id="16907"> | 121227 | ··············<TextSectionType·id="16907"> |
| 121330 | ················<Name·lang="en">Definition</Name> | 121228 | ················<Name·lang="en">Definition</Name> |
| 121331 | ··············</TextSectionType> | 121229 | ··············</TextSectionType> |
| 121332 | ··············<Contents>A·rare·syndrome·of·multiple·congenital·anomalies·characterized·by·radial·ray·malformations,·renal·abnormalities·(mild·malrotation,·ectopia,·horseshoe·kidney,·renal·hypoplasia,·vesico-ureteral·reflux,·bladder·diverticula),·and·ophthalmological·abnormalities·(mainly·colobomas,·but·also·microphthalmia,·ptosis,·and·Duane·anomaly).·The·phenotype·overlaps·with·other·<i>SALL4>/i>·related·disorders·including·Okihiro·syndrome·and·Holt-Oram·syndrome.</Contents> | 121230 | ··············<Contents>A·rare·syndrome·of·multiple·congenital·anomalies·characterized·by·radial·ray·malformations,·renal·abnormalities·(mild·malrotation,·ectopia,·horseshoe·kidney,·renal·hypoplasia,·vesico-ureteral·reflux,·bladder·diverticula),·and·ophthalmological·abnormalities·(mainly·colobomas,·but·also·microphthalmia,·ptosis,·and·Duane·anomaly).·The·phenotype·overlaps·with·other·<i>SALL4</i>-related·disorders·including·Okihiro·syndrome·and·Holt-Oram·syndrome.</Contents> |
| 121333 | ············</TextSection> | 121231 | ············</TextSection> |
| 121334 | ··········</TextSectionList> | 121232 | ··········</TextSectionList> |
| 121335 | ········</SummaryInformation> | 121233 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 146748 | ··············<TextSectionType·id="16907"> | 146646 | ··············<TextSectionType·id="16907"> |
| 146749 | ················<Name·lang="en">Definition</Name> | 146647 | ················<Name·lang="en">Definition</Name> |
| 146750 | ··············</TextSectionType> | 146648 | ··············</TextSectionType> |
| 146751 | ··············<Contents>Heart·defect·Â–·round·face·Â–·congenital·developmental·delay·is·very·rare·syndrome·described·in·three·sibs·of·one·Japanese·family·and·characterized·by·congenital·heart·disease,·round·face·with·depressed·nasal·bridge,·small·mouth,·short·stature,·and·relatively·dark·skin·and·typical·dermatoglyphic·anomalies,·and·intellectual·deficit.</Contents> | 146649 | ··············<Contents>A·very·rare·syndrome·described·in·three·sibs·of·one·Japanese·family·and·characterized·by·congenital·heart·disease,·round·face·with·depressed·nasal·bridge,·small·mouth,·short·stature,·and·relatively·dark·skin·and·typical·dermatoglyphic·anomalies,·and·intellectual·deficit.</Contents> |
| 146752 | ············</TextSection> | 146650 | ············</TextSection> |
| 146753 | ··········</TextSectionList> | 146651 | ··········</TextSectionList> |
| 146754 | ········</SummaryInformation> | 146652 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 157774 | ······</ExternalReferenceList> | 157672 | ······</ExternalReferenceList> |
| 157775 | ······<DisorderDisorderAssociationList·count="0"> | 157673 | ······<DisorderDisorderAssociationList·count="0"> |
| 157776 | ······</DisorderDisorderAssociationList> | 157674 | ······</DisorderDisorderAssociationList> |
| 157777 | ······<SummaryInformationList·count="1"> | 157675 | ······<SummaryInformationList·count="0"> |
| 157778 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 157779 | ··········<TextSectionList·count="0"> | |
| 157780 | ··········</TextSectionList> | |
| 157781 | ··········<TextAuto> | |
| 157782 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 157783 | ··········</TextAuto> | |
| 157784 | ········</SummaryInformation> | |
| 157785 | ······</SummaryInformationList> | 157676 | ······</SummaryInformationList> |
| 157786 | ····</Disorder> | 157677 | ····</Disorder> |
| 157787 | ····<Disorder·id="1676"> | 157678 | ····<Disorder·id="1676"> |
| ⋮ | ⋮ |
| 158473 | ······</ExternalReferenceList> | 158364 | ······</ExternalReferenceList> |
| 158474 | ······<DisorderDisorderAssociationList·count="0"> | 158365 | ······<DisorderDisorderAssociationList·count="0"> |
| 158475 | ······</DisorderDisorderAssociationList> | 158366 | ······</DisorderDisorderAssociationList> |
| 158476 | ······<SummaryInformationList·count="1"> | 158367 | ······<SummaryInformationList·count="0"> |
| 158477 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 158478 | ··········<TextSectionList·count="0"> | |
| 158479 | ··········</TextSectionList> | |
| 158480 | ··········<TextAuto> | |
| 158481 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 158482 | ··········</TextAuto> | |
| 158483 | ········</SummaryInformation> | |
| 158484 | ······</SummaryInformationList> | 158368 | ······</SummaryInformationList> |
| 158485 | ····</Disorder> | 158369 | ····</Disorder> |
| 158486 | ····<Disorder·id="1674"> | 158370 | ····<Disorder·id="1674"> |
| ⋮ | ⋮ |
| 166943 | ··············<TextSectionType·id="16907"> | 166827 | ··············<TextSectionType·id="16907"> |
| 166944 | ················<Name·lang="en">Definition</Name> | 166828 | ················<Name·lang="en">Definition</Name> |
| 166945 | ··············</TextSectionType> | 166829 | ··············</TextSectionType> |
| 166946 | ··············<Contents>A·rare·primary·bone·dysplasia·characterized,·radiologically,·by·short,·stubby·long·bones,·severely·angulated·femurs·and·lesser·bowing·of·other·long·bones·(mild,·moderate·or·no·bowing),·short·and·wide·illiac·wings·with·horizontal·acetabular·roofs,·platyspondyly·and·a·narrow·thorax,·clinically·manifesting·with·severe,·disproportionate·short·stature.·Regression·of·femora·angulation·is·observed·with·advancing·age.</Contents> | 166830 | ··············<Contents>A·rare·primary·bone·dysplasia·characterized,·radiologically,·by·short,·stubby·long·bones,·severely·angulated·femurs·and·lesser·bowing·of·other·long·bones·(mild,·moderate·or·no·bowing),·short·and·wide·iliac·wings·with·horizontal·acetabular·roofs,·platyspondyly·and·a·narrow·thorax,·clinically·manifesting·with·severe,·disproportionate·short·stature.·Regression·of·femora·angulation·is·observed·with·advancing·age.</Contents> |
| 166947 | ············</TextSection> | 166831 | ············</TextSection> |
| 166948 | ··········</TextSectionList> | 166832 | ··········</TextSectionList> |
| 166949 | ········</SummaryInformation> | 166833 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 169830 | ··········</DisorderDisorderAssociationType> | 169714 | ··········</DisorderDisorderAssociationType> |
| 169831 | ········</DisorderDisorderAssociation> | 169715 | ········</DisorderDisorderAssociation> |
| 169832 | ······</DisorderDisorderAssociationList> | 169716 | ······</DisorderDisorderAssociationList> |
| 169833 | ······<SummaryInformationList·count="1"> | 169717 | ······<SummaryInformationList·count="0"> |
| 169834 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 169835 | ··········<TextSectionList·count="0"> | |
| 169836 | ··········</TextSectionList> | |
| 169837 | ··········<TextAuto> | |
| 169838 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 169839 | ··········</TextAuto> | |
| 169840 | ········</SummaryInformation> | |
| 169841 | ······</SummaryInformationList> | 169718 | ······</SummaryInformationList> |
| 169842 | ····</Disorder> | 169719 | ····</Disorder> |
| 169843 | ····<Disorder·id="2000"> | 169720 | ····<Disorder·id="2000"> |
| ⋮ | ⋮ |
| 171015 | ······</ExternalReferenceList> | 170892 | ······</ExternalReferenceList> |
| 171016 | ······<DisorderDisorderAssociationList·count="0"> | 170893 | ······<DisorderDisorderAssociationList·count="0"> |
| 171017 | ······</DisorderDisorderAssociationList> | 170894 | ······</DisorderDisorderAssociationList> |
| 171018 | ······<SummaryInformationList·count="1"> | 170895 | ······<SummaryInformationList·count="0"> |
| 171019 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 171020 | ··········<TextSectionList·count="0"> | |
| 171021 | ··········</TextSectionList> | |
| 171022 | ··········<TextAuto> | |
| 171023 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 171024 | ··········</TextAuto> | |
| 171025 | ········</SummaryInformation> | |
| 171026 | ······</SummaryInformationList> | 170896 | ······</SummaryInformationList> |
| 171027 | ····</Disorder> | 170897 | ····</Disorder> |
| 171028 | ····<Disorder·id="2014"> | 170898 | ····<Disorder·id="2014"> |
| ⋮ | ⋮ |
| 171163 | ······</ExternalReferenceList> | 171033 | ······</ExternalReferenceList> |
| 171164 | ······<DisorderDisorderAssociationList·count="0"> | 171034 | ······<DisorderDisorderAssociationList·count="0"> |
| 171165 | ······</DisorderDisorderAssociationList> | 171035 | ······</DisorderDisorderAssociationList> |
| 171166 | ······<SummaryInformationList·count="1"> | 171036 | ······<SummaryInformationList·count="0"> |
| 171167 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 171168 | ··········<TextSectionList·count="0"> | |
| 171169 | ··········</TextSectionList> | |
| 171170 | ··········<TextAuto> | |
| 171171 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 171172 | ··········</TextAuto> | |
| 171173 | ········</SummaryInformation> | |
| 171174 | ······</SummaryInformationList> | 171037 | ······</SummaryInformationList> |
| 171175 | ····</Disorder> | 171038 | ····</Disorder> |
| 171176 | ····<Disorder·id="2015"> | 171039 | ····<Disorder·id="2015"> |
| ⋮ | ⋮ |
| 180432 | ··············<TextSectionType·id="16907"> | 180295 | ··············<TextSectionType·id="16907"> |
| 180433 | ················<Name·lang="en">Definition</Name> | 180296 | ················<Name·lang="en">Definition</Name> |
| 180434 | ··············</TextSectionType> | 180297 | ··············</TextSectionType> |
| 180435 | ··············<Contents>A·rare·primary·bone·dysplasia·syndrome·characterized·by·growth·retardation·with·proportionate·short·stature,·cortical·thickening·and·medullary·stenosis·of·the·long·bones,·delayed·anterior·fontanelle·closure,·hypocalcemia·due·to·congenital·hypoparathyroidism·and·facial·dysmorphism,·including·prominent·forehead,·microphthalmia,·and·micrognathia.·Additonal·manifestations·include·ocular·and·dental·anomalies·(e.g.·corneal·opacity,·hyperopia,·optic·atrophy,·tortuous·retinal·vessels,·dental·caries,·enamel·defects)·and,·occasionally,·hypoplastic·nails·and·neonatal·liver·disease.·Inheritance·may·be·autosomal·dominant·or·autosomal·recessive,·with·more·severe·growth·retardation,·small·hands·and·feet,·intellectual·disability,·microcephaly·and·recurrent·bacterial·infections·being·observed·in·the·latter.</Contents> | 180298 | ··············<Contents>A·rare·primary·bone·dysplasia·syndrome·characterized·by·growth·retardation·with·proportionate·short·stature,·cortical·thickening·and·medullary·stenosis·of·the·long·bones,·delayed·anterior·fontanelle·closure,·hypocalcemia·due·to·congenital·hypoparathyroidism·and·facial·dysmorphism,·including·prominent·forehead,·microphthalmia,·and·micrognathia.·Additional·manifestations·include·ocular·and·dental·anomalies·(e.g.·corneal·opacity,·hyperopia,·optic·atrophy,·tortuous·retinal·vessels,·dental·caries,·enamel·defects)·and,·occasionally,·hypoplastic·nails·and·neonatal·liver·disease.·Inheritance·may·be·autosomal·dominant·or·autosomal·recessive,·with·more·severe·growth·retardation,·small·hands·and·feet,·intellectual·disability,·microcephaly·and·recurrent·bacterial·infections·being·observed·in·the·latter.</Contents> |
| 180436 | ············</TextSection> | 180299 | ············</TextSection> |
| 180437 | ··········</TextSectionList> | 180300 | ··········</TextSectionList> |
| 180438 | ········</SummaryInformation> | 180301 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 182849 | ······</ExternalReferenceList> | 182712 | ······</ExternalReferenceList> |
| 182850 | ······<DisorderDisorderAssociationList·count="0"> | 182713 | ······<DisorderDisorderAssociationList·count="0"> |
| 182851 | ······</DisorderDisorderAssociationList> | 182714 | ······</DisorderDisorderAssociationList> |
| 182852 | ······<SummaryInformationList·count="1"> | 182715 | ······<SummaryInformationList·count="0"> |
| 182853 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 182854 | ··········<TextSectionList·count="0"> | |
| 182855 | ··········</TextSectionList> | |
| 182856 | ··········<TextAuto> | |
| 182857 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 182858 | ··········</TextAuto> | |
| 182859 | ········</SummaryInformation> | |
| 182860 | ······</SummaryInformationList> | 182716 | ······</SummaryInformationList> |
| 182861 | ····</Disorder> | 182717 | ····</Disorder> |
| 182862 | ····<Disorder·id="2233"> | 182718 | ····<Disorder·id="2233"> |
| ⋮ | ⋮ |
| 183421 | ······</ExternalReferenceList> | 183277 | ······</ExternalReferenceList> |
| 183422 | ······<DisorderDisorderAssociationList·count="0"> | 183278 | ······<DisorderDisorderAssociationList·count="0"> |
| 183423 | ······</DisorderDisorderAssociationList> | 183279 | ······</DisorderDisorderAssociationList> |
| 183424 | ······<SummaryInformationList·count="1"> | 183280 | ······<SummaryInformationList·count="0"> |
| 183425 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 183426 | ··········<TextSectionList·count="0"> | |
| 183427 | ··········</TextSectionList> | |
| 183428 | ··········<TextAuto> | |
| 183429 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 183430 | ··········</TextAuto> | |
| 183431 | ········</SummaryInformation> | |
| 183432 | ······</SummaryInformationList> | 183281 | ······</SummaryInformationList> |
| 183433 | ····</Disorder> | 183282 | ····</Disorder> |
| 183434 | ····<Disorder·id="2227"> | 183283 | ····<Disorder·id="2227"> |
| ⋮ | ⋮ |
| 183733 | ······</ExternalReferenceList> | 183582 | ······</ExternalReferenceList> |
| 183734 | ······<DisorderDisorderAssociationList·count="0"> | 183583 | ······<DisorderDisorderAssociationList·count="0"> |
| 183735 | ······</DisorderDisorderAssociationList> | 183584 | ······</DisorderDisorderAssociationList> |
| 183736 | ······<SummaryInformationList·count="1"> | 183585 | ······<SummaryInformationList·count="0"> |
| 183737 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 183738 | ··········<TextSectionList·count="0"> | |
| 183739 | ··········</TextSectionList> | |
| 183740 | ··········<TextAuto> | |
| 183741 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 183742 | ··········</TextAuto> | |
| 183743 | ········</SummaryInformation> | |
| 183744 | ······</SummaryInformationList> | 183586 | ······</SummaryInformationList> |
| 183745 | ····</Disorder> | 183587 | ····</Disorder> |
| 183746 | ····<Disorder·id="19574"> | 183588 | ····<Disorder·id="19574"> |
| ⋮ | ⋮ |
| 183765 | ······</ExternalReferenceList> | 183607 | ······</ExternalReferenceList> |
| 183766 | ······<DisorderDisorderAssociationList·count="0"> | 183608 | ······<DisorderDisorderAssociationList·count="0"> |
| 183767 | ······</DisorderDisorderAssociationList> | 183609 | ······</DisorderDisorderAssociationList> |
| 183768 | ······<SummaryInformationList·count="1"> | 183610 | ······<SummaryInformationList·count="0"> |
| 183769 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 183770 | ··········<TextSectionList·count="0"> | |
| 183771 | ··········</TextSectionList> | |
| 183772 | ··········<TextAuto> | |
| 183773 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 183774 | ··········</TextAuto> | |
| 183775 | ········</SummaryInformation> | |
| 183776 | ······</SummaryInformationList> | 183611 | ······</SummaryInformationList> |
| 183777 | ····</Disorder> | 183612 | ····</Disorder> |
| 183778 | ····<Disorder·id="19573"> | 183613 | ····<Disorder·id="19573"> |
| ⋮ | ⋮ |
| 190687 | ······</ExternalReferenceList> | 190522 | ······</ExternalReferenceList> |
| 190688 | ······<DisorderDisorderAssociationList·count="0"> | 190523 | ······<DisorderDisorderAssociationList·count="0"> |
| 190689 | ······</DisorderDisorderAssociationList> | 190524 | ······</DisorderDisorderAssociationList> |
| 190690 | ······<SummaryInformationList·count="1"> | 190525 | ······<SummaryInformationList·count="0"> |
| 190691 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 190692 | ··········<TextSectionList·count="0"> | |
| 190693 | ··········</TextSectionList> | |
| 190694 | ··········<TextAuto> | |
| 190695 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 190696 | ··········</TextAuto> | |
| 190697 | ········</SummaryInformation> | |
| 190698 | ······</SummaryInformationList> | 190526 | ······</SummaryInformationList> |
| 190699 | ····</Disorder> | 190527 | ····</Disorder> |
| 190700 | ····<Disorder·id="2071"> | 190528 | ····<Disorder·id="2071"> |
| ⋮ | ⋮ |
| 191117 | ······</ExternalReferenceList> | 190945 | ······</ExternalReferenceList> |
| 191118 | ······<DisorderDisorderAssociationList·count="0"> | 190946 | ······<DisorderDisorderAssociationList·count="0"> |
| 191119 | ······</DisorderDisorderAssociationList> | 190947 | ······</DisorderDisorderAssociationList> |
| 191120 | ······<SummaryInformationList·count="1"> | 190948 | ······<SummaryInformationList·count="0"> |
| 191121 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 191122 | ··········<TextSectionList·count="0"> | |
| 191123 | ··········</TextSectionList> | |
| 191124 | ··········<TextAuto> | |
| 191125 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 191126 | ··········</TextAuto> | |
| 191127 | ········</SummaryInformation> | |
| 191128 | ······</SummaryInformationList> | 190949 | ······</SummaryInformationList> |
| 191129 | ····</Disorder> | 190950 | ····</Disorder> |
| 191130 | ····<Disorder·id="19674"> | 190951 | ····<Disorder·id="19674"> |
| ⋮ | ⋮ |
| 191793 | ······</ExternalReferenceList> | 191614 | ······</ExternalReferenceList> |
| 191794 | ······<DisorderDisorderAssociationList·count="0"> | 191615 | ······<DisorderDisorderAssociationList·count="0"> |
| 191795 | ······</DisorderDisorderAssociationList> | 191616 | ······</DisorderDisorderAssociationList> |
| 191796 | ······<SummaryInformationList·count="1"> | 191617 | ······<SummaryInformationList·count="0"> |
| 191797 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 191798 | ··········<TextSectionList·count="0"> | |
| 191799 | ··········</TextSectionList> | |
| 191800 | ··········<TextAuto> | |
| 191801 | ············<Info·lang="en">This·disease·is·not·rare·in·Europe.·It·does·not·belong·to·the·Orphanet·nomenclature·of·rare·diseases.</Info> | |
| 191802 | ··········</TextAuto> | |
| 191803 | ········</SummaryInformation> | |
| 191804 | ······</SummaryInformationList> | 191618 | ······</SummaryInformationList> |
| 191805 | ····</Disorder> | 191619 | ····</Disorder> |
| 191806 | ····<Disorder·id="19648"> | 191620 | ····<Disorder·id="19648"> |
| ⋮ | ⋮ |
| 191825 | ······</ExternalReferenceList> | 191639 | ······</ExternalReferenceList> |
| 191826 | ······<DisorderDisorderAssociationList·count="0"> | 191640 | ······<DisorderDisorderAssociationList·count="0"> |
| 191827 | ······</DisorderDisorderAssociationList> | 191641 | ······</DisorderDisorderAssociationList> |
| 191828 | ······<SummaryInformationList·count="1"> | 191642 | ······<SummaryInformationList·count="0"> |
| 191829 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 191830 | ··········<TextSectionList·count="0"> | |
| 191831 | ··········</TextSectionList> | |
| 191832 | ··········<TextAuto> | |
| 191833 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 191834 | ··········</TextAuto> | |
| 191835 | ········</SummaryInformation> | |
| 191836 | ······</SummaryInformationList> | 191643 | ······</SummaryInformationList> |
| 191837 | ····</Disorder> | 191644 | ····</Disorder> |
| 191838 | ····<Disorder·id="2050"> | 191645 | ····<Disorder·id="2050"> |
| ⋮ | ⋮ |
| 192298 | ······</ExternalReferenceList> | 192105 | ······</ExternalReferenceList> |
| 192299 | ······<DisorderDisorderAssociationList·count="0"> | 192106 | ······<DisorderDisorderAssociationList·count="0"> |
| 192300 | ······</DisorderDisorderAssociationList> | 192107 | ······</DisorderDisorderAssociationList> |
| 192301 | ······<SummaryInformationList·count="1"> | 192108 | ······<SummaryInformationList·count="0"> |
| 192302 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 192303 | ··········<TextSectionList·count="0"> | |
| 192304 | ··········</TextSectionList> | |
| 192305 | ··········<TextAuto> | |
| 192306 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 192307 | ··········</TextAuto> | |
| 192308 | ········</SummaryInformation> | |
| 192309 | ······</SummaryInformationList> | 192109 | ······</SummaryInformationList> |
| 192310 | ····</Disorder> | 192110 | ····</Disorder> |
| 192311 | ····<Disorder·id="19652"> | 192111 | ····<Disorder·id="19652"> |
| ⋮ | ⋮ |
| 203650 | ··············<TextSectionType·id="16907"> | 203450 | ··············<TextSectionType·id="16907"> |
| 203651 | ················<Name·lang="en">Definition</Name> | 203451 | ················<Name·lang="en">Definition</Name> |
| 203652 | ··············</TextSectionType> | 203452 | ··············</TextSectionType> |
| 203653 | ··············<Contents>Familial·hyperaldosteronism·type·III·(FH-III)·is·a·rare·heritable·form·of·primary·aldosteronism·(PA)·that·is·characterized·by·early-onset·severe·hypertension,·non·glucocorticoid-remediable·hyperaldosteronism,·overproduction·of·18-oxocortisol·and·18-hydroxycortisol,·and·profound·hypokalemia.</Contents> | 203453 | ··············<Contents>A·rare·heritable·form·of·primary·aldosteronism·(PA)·that·is·characterized·by·early-onset·severe·hypertension,·non-·glucocorticoid-remediable·hyperaldosteronism,·overproduction·of·18-oxocortisol·and·18-hydroxycortisol,·and·profound·hypokalemia.</Contents> |
| 203654 | ············</TextSection> | 203454 | ············</TextSection> |
| 203655 | ··········</TextSectionList> | 203455 | ··········</TextSectionList> |
| 203656 | ········</SummaryInformation> | 203456 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 218025 | ··········</DisorderDisorderAssociationType> | 217825 | ··········</DisorderDisorderAssociationType> |
| 218026 | ········</DisorderDisorderAssociation> | 217826 | ········</DisorderDisorderAssociation> |
| 218027 | ······</DisorderDisorderAssociationList> | 217827 | ······</DisorderDisorderAssociationList> |
| 218028 | ······<SummaryInformationList·count="1"> | 217828 | ······<SummaryInformationList·count="0"> |
| 218029 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 218030 | ··········<TextSectionList·count="0"> | |
| 218031 | ··········</TextSectionList> | |
| 218032 | ··········<TextAuto> | |
| 218033 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 218034 | ··········</TextAuto> | |
| 218035 | ········</SummaryInformation> | |
| 218036 | ······</SummaryInformationList> | 217829 | ······</SummaryInformationList> |
| 218037 | ····</Disorder> | 217830 | ····</Disorder> |
| 218038 | ····<Disorder·id="2558"> | 217831 | ····<Disorder·id="2558"> |
| ⋮ | ⋮ |
| 218257 | ······</ExternalReferenceList> | 218050 | ······</ExternalReferenceList> |
| 218258 | ······<DisorderDisorderAssociationList·count="0"> | 218051 | ······<DisorderDisorderAssociationList·count="0"> |
| 218259 | ······</DisorderDisorderAssociationList> | 218052 | ······</DisorderDisorderAssociationList> |
| 218260 | ······<SummaryInformationList·count="1"> | 218053 | ······<SummaryInformationList·count="0"> |
| 218261 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 218262 | ··········<TextSectionList·count="0"> | |
| 218263 | ··········</TextSectionList> | |
| 218264 | ··········<TextAuto> | |
| 218265 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 218266 | ··········</TextAuto> | |
| 218267 | ········</SummaryInformation> | |
| 218268 | ······</SummaryInformationList> | 218054 | ······</SummaryInformationList> |
| 218269 | ····</Disorder> | 218055 | ····</Disorder> |
| 218270 | ····<Disorder·id="19769"> | 218056 | ····<Disorder·id="19769"> |
| ⋮ | ⋮ |
| 229971 | ··············<TextSectionType·id="16907"> | 229757 | ··············<TextSectionType·id="16907"> |
| 229972 | ················<Name·lang="en">Definition</Name> | 229758 | ················<Name·lang="en">Definition</Name> |
| 229973 | ··············</TextSectionType> | 229759 | ··············</TextSectionType> |
| 229974 | ··············<Contents>A·rare·chromosomal·anomaly·syndrome,·resulting·from·the·partial·deletion·of·the·long·arm·of·chromosome·22,·outside·the·DiGeorge·critical·region.·The·phenotype·is·characterized·by·prematurity,·pre-·and·post-natal·growth·retardation,·developmental·delay·(particularly·speech),·mild·intellectual·disability,·variable·cardiac·defects,·and·minor·skeletal·anomalies·(such·as·clinodactyly).·Dysmorphic·features·present·in·half·of·the·individuals·include·microcephaly,·arched·eyebrows,·deep·set·eyes,·narrow·upslanting·palpebral·fissures,·ear·abnormalities·(low-set·ears,·tags·and·pits),·hypoplastic·alae·nasi,·smooth·philtrum,·down-turned·mouth,·thin·upper·lip,·retro/micrognatia·and·pointed·chin.·For·certain·very·distal·deletions·including·the·SMARCB1·gene,·there·is·a·risk·of·developing·malignant·rhabdoid·tumours.·Most·deletions·are·de·novo.</Contents> | 229760 | ··············<Contents>A·rare·chromosomal·anomaly·syndrome,·resulting·from·the·partial·deletion·of·the·long·arm·of·chromosome·22,·outside·the·DiGeorge·critical·region.·The·phenotype·is·characterized·by·prematurity,·pre-·and·post-natal·growth·retardation,·developmental·delay·(particularly·speech),·mild·intellectual·disability,·variable·cardiac·defects,·and·minor·skeletal·anomalies·(such·as·clinodactyly).·Dysmorphic·features·present·in·half·of·the·individuals·include·microcephaly,·arched·eyebrows,·deep·set·eyes,·narrow·upslanting·palpebral·fissures,·ear·abnormalities·(low-set·ears,·tags·and·pits),·hypoplastic·alae·nasi,·smooth·philtrum,·down-turned·mouth,·thin·upper·lip,·retro/micrognatia·and·pointed·chin.·For·certain·very·distal·deletions·including·the·<i>SMARCB1</i>·gene,·there·is·a·risk·of·developing·malignant·rhabdoid·tumours.·Most·deletions·are·<i>de·novo·</i>.</Contents> |
| 229975 | ············</TextSection> | 229761 | ············</TextSection> |
| 229976 | ··········</TextSectionList> | 229762 | ··········</TextSectionList> |
| 229977 | ········</SummaryInformation> | 229763 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 238987 | ··············<TextSectionType·id="16907"> | 238773 | ··············<TextSectionType·id="16907"> |
| 238988 | ················<Name·lang="en">Definition</Name> | 238774 | ················<Name·lang="en">Definition</Name> |
| 238989 | ··············</TextSectionType> | 238775 | ··············</TextSectionType> |
| 238990 | ··············<Contents>Ulnar-mammary·syndrome·(UMS)·is·a·rare·developmental·disorder·characterized·by·ulnar·defects,·mammary·and·apocrine·gland·hypoplasia·and·genital·anomalies.·Delayed·puberty·dental·anomalies,·short·stature·and·obesity·have·also·been·described.</Contents> | 238776 | ··············<Contents>A·rare·congenital·anomalies·syndrome·characterized·by·a·variable·spectrum·of·ulnar·defects,·mammary·and·apocrine·gland·hypoplasia·and·genital·anomalies.·The·most·frequent·signs·include·fifth·finger·and·dental·anomalies,·delayed·puberty·and·mammary·hypoplasia.·Short·stature·and·obesity·are·common.</Contents> |
| 238991 | ············</TextSection> | 238777 | ············</TextSection> |
| 238992 | ··········</TextSectionList> | 238778 | ··········</TextSectionList> |
| 238993 | ········</SummaryInformation> | 238779 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 246497 | ······</ExternalReferenceList> | 246283 | ······</ExternalReferenceList> |
| 246498 | ······<DisorderDisorderAssociationList·count="0"> | 246284 | ······<DisorderDisorderAssociationList·count="0"> |
| 246499 | ······</DisorderDisorderAssociationList> | 246285 | ······</DisorderDisorderAssociationList> |
| 246500 | ······<SummaryInformationList·count="1"> | 246286 | ······<SummaryInformationList·count="0"> |
| 246501 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 246502 | ··········<TextSectionList·count="0"> | |
| 246503 | ··········</TextSectionList> | |
| 246504 | ··········<TextAuto> | |
| 246505 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 246506 | ··········</TextAuto> | |
| 246507 | ········</SummaryInformation> | |
| 246508 | ······</SummaryInformationList> | 246287 | ······</SummaryInformationList> |
| 246509 | ····</Disorder> | 246288 | ····</Disorder> |
| 246510 | ····<Disorder·id="20192"> | 246289 | ····<Disorder·id="20192"> |
| ⋮ | ⋮ |
| 248443 | ······</ExternalReferenceList> | 248222 | ······</ExternalReferenceList> |
| 248444 | ······<DisorderDisorderAssociationList·count="0"> | 248223 | ······<DisorderDisorderAssociationList·count="0"> |
| 248445 | ······</DisorderDisorderAssociationList> | 248224 | ······</DisorderDisorderAssociationList> |
| 248446 | ······<SummaryInformationList·count="1"> | 248225 | ······<SummaryInformationList·count="0"> |
| 248447 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 248448 | ··········<TextSectionList·count="0"> | |
| 248449 | ··········</TextSectionList> | |
| 248450 | ··········<TextAuto> | |
| 248451 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 248452 | ··········</TextAuto> | |
| 248453 | ········</SummaryInformation> | |
| 248454 | ······</SummaryInformationList> | 248226 | ······</SummaryInformationList> |
| 248455 | ····</Disorder> | 248227 | ····</Disorder> |
| 248456 | ····<Disorder·id="20188"> | 248228 | ····<Disorder·id="20188"> |
| ⋮ | ⋮ |
| 253435 | ······</ExternalReferenceList> | 253207 | ······</ExternalReferenceList> |
| 253436 | ······<DisorderDisorderAssociationList·count="0"> | 253208 | ······<DisorderDisorderAssociationList·count="0"> |
| 253437 | ······</DisorderDisorderAssociationList> | 253209 | ······</DisorderDisorderAssociationList> |
| 253438 | ······<SummaryInformationList·count="1"> | 253210 | ······<SummaryInformationList·count="0"> |
| 253439 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 253440 | ··········<TextSectionList·count="0"> | |
| 253441 | ··········</TextSectionList> | |
| 253442 | ··········<TextAuto> | |
| 253443 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 253444 | ··········</TextAuto> | |
| 253445 | ········</SummaryInformation> | |
| 253446 | ······</SummaryInformationList> | 253211 | ······</SummaryInformationList> |
| 253447 | ····</Disorder> | 253212 | ····</Disorder> |
| 253448 | ····<Disorder·id="20113"> | 253213 | ····<Disorder·id="20113"> |
| ⋮ | ⋮ |
| 255370 | ······</ExternalReferenceList> | 255135 | ······</ExternalReferenceList> |
| 255371 | ······<DisorderDisorderAssociationList·count="0"> | 255136 | ······<DisorderDisorderAssociationList·count="0"> |
| 255372 | ······</DisorderDisorderAssociationList> | 255137 | ······</DisorderDisorderAssociationList> |
| 255373 | ······<SummaryInformationList·count="1"> | 255138 | ······<SummaryInformationList·count="0"> |
| 255374 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 255375 | ··········<TextSectionList·count="0"> | |
| 255376 | ··········</TextSectionList> | |
| 255377 | ··········<TextAuto> | |
| 255378 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 255379 | ··········</TextAuto> | |
| 255380 | ········</SummaryInformation> | |
| 255381 | ······</SummaryInformationList> | 255139 | ······</SummaryInformationList> |
| 255382 | ····</Disorder> | 255140 | ····</Disorder> |
| 255383 | ····<Disorder·id="2634"> | 255141 | ····<Disorder·id="2634"> |
| ⋮ | ⋮ |
| 255477 | ······</ExternalReferenceList> | 255235 | ······</ExternalReferenceList> |
| 255478 | ······<DisorderDisorderAssociationList·count="0"> | 255236 | ······<DisorderDisorderAssociationList·count="0"> |
| 255479 | ······</DisorderDisorderAssociationList> | 255237 | ······</DisorderDisorderAssociationList> |
| 255480 | ······<SummaryInformationList·count="1"> | 255238 | ······<SummaryInformationList·count="0"> |
| 255481 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 255482 | ··········<TextSectionList·count="0"> | |
| 255483 | ··········</TextSectionList> | |
| 255484 | ··········<TextAuto> | |
| 255485 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 255486 | ··········</TextAuto> | |
| 255487 | ········</SummaryInformation> | |
| 255488 | ······</SummaryInformationList> | 255239 | ······</SummaryInformationList> |
| 255489 | ····</Disorder> | 255240 | ····</Disorder> |
| 255490 | ····<Disorder·id="2635"> | 255241 | ····<Disorder·id="2635"> |
| ⋮ | ⋮ |
| 255607 | ······</ExternalReferenceList> | 255358 | ······</ExternalReferenceList> |
| 255608 | ······<DisorderDisorderAssociationList·count="0"> | 255359 | ······<DisorderDisorderAssociationList·count="0"> |
| 255609 | ······</DisorderDisorderAssociationList> | 255360 | ······</DisorderDisorderAssociationList> |
| 255610 | ······<SummaryInformationList·count="1"> | 255361 | ······<SummaryInformationList·count="0"> |
| 255611 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 255612 | ··········<TextSectionList·count="0"> | |
| 255613 | ··········</TextSectionList> | |
| 255614 | ··········<TextAuto> | |
| 255615 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 255616 | ··········</TextAuto> | |
| 255617 | ········</SummaryInformation> | |
| 255618 | ······</SummaryInformationList> | 255362 | ······</SummaryInformationList> |
| 255619 | ····</Disorder> | 255363 | ····</Disorder> |
| 255620 | ····<Disorder·id="20109"> | 255364 | ····<Disorder·id="20109"> |
| ⋮ | ⋮ |
| 258742 | ······</ExternalReferenceList> | 258486 | ······</ExternalReferenceList> |
| 258743 | ······<DisorderDisorderAssociationList·count="0"> | 258487 | ······<DisorderDisorderAssociationList·count="0"> |
| 258744 | ······</DisorderDisorderAssociationList> | 258488 | ······</DisorderDisorderAssociationList> |
| 258745 | ······<SummaryInformationList·count="1"> | 258489 | ······<SummaryInformationList·count="0"> |
| 258746 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 258747 | ··········<TextSectionList·count="0"> | |
| 258748 | ··········</TextSectionList> | |
| 258749 | ··········<TextAuto> | |
| 258750 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 258751 | ··········</TextAuto> | |
| 258752 | ········</SummaryInformation> | |
| 258753 | ······</SummaryInformationList> | 258490 | ······</SummaryInformationList> |
| 258754 | ····</Disorder> | 258491 | ····</Disorder> |
| 258755 | ····<Disorder·id="20346"> | 258492 | ····<Disorder·id="20346"> |
| ⋮ | ⋮ |
| 288696 | ······</ExternalReferenceList> | 288433 | ······</ExternalReferenceList> |
| 288697 | ······<DisorderDisorderAssociationList·count="0"> | 288434 | ······<DisorderDisorderAssociationList·count="0"> |
| 288698 | ······</DisorderDisorderAssociationList> | 288435 | ······</DisorderDisorderAssociationList> |
| 288699 | ······<SummaryInformationList·count="1"> | 288436 | ······<SummaryInformationList·count="0"> |
| 288700 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 288701 | ··········<TextSectionList·count="0"> | |
| 288702 | ··········</TextSectionList> | |
| 288703 | ··········<TextAuto> | |
| 288704 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 288705 | ··········</TextAuto> | |
| 288706 | ········</SummaryInformation> | |
| 288707 | ······</SummaryInformationList> | 288437 | ······</SummaryInformationList> |
| 288708 | ····</Disorder> | 288438 | ····</Disorder> |
| 288709 | ····<Disorder·id="18541"> | 288439 | ····<Disorder·id="18541"> |
| ⋮ | ⋮ |
| 289124 | ··············<TextSectionType·id="16907"> | 288854 | ··············<TextSectionType·id="16907"> |
| 289125 | ················<Name·lang="en">Definition</Name> | 288855 | ················<Name·lang="en">Definition</Name> |
| 289126 | ··············</TextSectionType> | 288856 | ··············</TextSectionType> |
| 289127 | ··············<Contents>Bardet-Biedl·syndrome·(BBS)·is·a·ciliopathy·with·multisystem·involvement.</Contents> | 288857 | ··············<Contents>A·rare·genetic·multisystem·disorder·characterized·by·the·variable·association·of·retinal·dystrophy,·obesity,·polydactyly,·genitourinary·and·kidney·anomalies,·learning·disability·and·hypogonadism,·with·a·wide·spectrum·of·other·minor·manifestations.</Contents> |
| 289128 | ············</TextSection> | 288858 | ············</TextSection> |
| 289129 | ··········</TextSectionList> | 288859 | ··········</TextSectionList> |
| 289130 | ········</SummaryInformation> | 288860 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 304669 | ······</ExternalReferenceList> | 304399 | ······</ExternalReferenceList> |
| 304670 | ······<DisorderDisorderAssociationList·count="0"> | 304400 | ······<DisorderDisorderAssociationList·count="0"> |
| 304671 | ······</DisorderDisorderAssociationList> | 304401 | ······</DisorderDisorderAssociationList> |
| 304672 | ······<SummaryInformationList·count="1"> | 304402 | ······<SummaryInformationList·count="0"> |
| 304673 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 304674 | ··········<TextSectionList·count="0"> | |
| 304675 | ··········</TextSectionList> | |
| 304676 | ··········<TextAuto> | |
| 304677 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 304678 | ··········</TextAuto> | |
| 304679 | ········</SummaryInformation> | |
| 304680 | ······</SummaryInformationList> | 304403 | ······</SummaryInformationList> |
| 304681 | ····</Disorder> | 304404 | ····</Disorder> |
| 304682 | ····<Disorder·id="3572"> | 304405 | ····<Disorder·id="3572"> |
| ⋮ | ⋮ |
| 305821 | ······</ExternalReferenceList> | 305544 | ······</ExternalReferenceList> |
| 305822 | ······<DisorderDisorderAssociationList·count="0"> | 305545 | ······<DisorderDisorderAssociationList·count="0"> |
| 305823 | ······</DisorderDisorderAssociationList> | 305546 | ······</DisorderDisorderAssociationList> |
| 305824 | ······<SummaryInformationList·count="1"> | 305547 | ······<SummaryInformationList·count="0"> |
| 305825 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 305826 | ··········<TextSectionList·count="0"> | |
| 305827 | ··········</TextSectionList> | |
| 305828 | ··········<TextAuto> | |
| 305829 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 305830 | ··········</TextAuto> | |
| 305831 | ········</SummaryInformation> | |
| 305832 | ······</SummaryInformationList> | 305548 | ······</SummaryInformationList> |
| 305833 | ····</Disorder> | 305549 | ····</Disorder> |
| 305834 | ····<Disorder·id="3577"> | 305550 | ····<Disorder·id="3577"> |
| ⋮ | ⋮ |
| 314367 | ······</ExternalReferenceList> | 314083 | ······</ExternalReferenceList> |
| 314368 | ······<DisorderDisorderAssociationList·count="0"> | 314084 | ······<DisorderDisorderAssociationList·count="0"> |
| 314369 | ······</DisorderDisorderAssociationList> | 314085 | ······</DisorderDisorderAssociationList> |
| 314370 | ······<SummaryInformationList·count="1"> | 314086 | ······<SummaryInformationList·count="0"> |
| 314371 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 314372 | ··········<TextSectionList·count="0"> | |
| 314373 | ··········</TextSectionList> | |
| 314374 | ··········<TextAuto> | |
| 314375 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 314376 | ··········</TextAuto> | |
| 314377 | ········</SummaryInformation> | |
| 314378 | ······</SummaryInformationList> | 314087 | ······</SummaryInformationList> |
| 314379 | ····</Disorder> | 314088 | ····</Disorder> |
| 314380 | ····<Disorder·id="3399"> | 314089 | ····<Disorder·id="3399"> |
| ⋮ | ⋮ |
| 319490 | ······</ExternalReferenceList> | 319199 | ······</ExternalReferenceList> |
| 319491 | ······<DisorderDisorderAssociationList·count="0"> | 319200 | ······<DisorderDisorderAssociationList·count="0"> |
| 319492 | ······</DisorderDisorderAssociationList> | 319201 | ······</DisorderDisorderAssociationList> |
| 319493 | ······<SummaryInformationList·count="1"> | 319202 | ······<SummaryInformationList·count="0"> |
| 319494 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 319495 | ··········<TextSectionList·count="0"> | |
| 319496 | ··········</TextSectionList> | |
| 319497 | ··········<TextAuto> | |
| 319498 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 319499 | ··········</TextAuto> | |
| 319500 | ········</SummaryInformation> | |
| 319501 | ······</SummaryInformationList> | 319203 | ······</SummaryInformationList> |
| 319502 | ····</Disorder> | 319204 | ····</Disorder> |
| 319503 | ····<Disorder·id="3441"> | 319205 | ····<Disorder·id="3441"> |
| ⋮ | ⋮ |
| 329777 | ······<DisorderGroup·id="36547"> | 329479 | ······<DisorderGroup·id="36547"> |
| 329778 | ········<Name·lang="en">Disorder</Name> | 329480 | ········<Name·lang="en">Disorder</Name> |
| 329779 | ······</DisorderGroup> | 329481 | ······</DisorderGroup> |
| 329780 | ······<ExternalReferenceList·count="11"> | 329482 | ······<ExternalReferenceList·count="12"> |
| 329781 | ········<ExternalReference·id="145480"> | 329483 | ········<ExternalReference·id="145480"> |
| 329782 | ··········<Source>GARD</Source> | 329484 | ··········<Source>GARD</Source> |
| 329783 | ··········<Reference>4894</Reference> | 329485 | ··········<Reference>4894</Reference> |
| ⋮ | ⋮ |
| 329811 | ············<Name·lang="en">Validated</Name> | 329513 | ············<Name·lang="en">Validated</Name> |
| 329812 | ··········</DisorderMappingValidationStatus> | 329514 | ··········</DisorderMappingValidationStatus> |
| 329813 | ········</ExternalReference> | 329515 | ········</ExternalReference> |
| | 329516 | ········<ExternalReference·id="200334"> |
| | 329517 | ··········<Source>ICD-10</Source> |
| | 329518 | ··········<Reference>C91.8</Reference> |
| | 329519 | ··········<DisorderMappingRelation·id="21541"> |
| | 329520 | ············<Name·lang="en">BTNT·(ORPHA·code's·Broader·Term·maps·to·a·Narrower·Term)</Name> |
| | 329521 | ··········</DisorderMappingRelation> |
| | 329522 | ··········<DisorderMappingICDRelation·id="21583"> |
| | 329523 | ············<Name·lang="en">Specific·code·(The·ORPHA·code·has·its·own·code·in·the·ICD10)</Name> |
| | 329524 | ··········</DisorderMappingICDRelation> |
| | 329525 | ··········<DisorderMappingValidationStatus·id="21611"> |
| | 329526 | ············<Name·lang="en">Validated</Name> |
| | 329527 | ··········</DisorderMappingValidationStatus> |
| | 329528 | ········</ExternalReference> |
| 329814 | ········<ExternalReference·id="112356"> | 329529 | ········<ExternalReference·id="112356"> |
| 329815 | ··········<Source>MedDRA</Source> | 329530 | ··········<Source>MedDRA</Source> |
| 329816 | ··········<Reference>10006595</Reference> | 329531 | ··········<Reference>10006595</Reference> |
| ⋮ | ⋮ |
| 329844 | ············<Name·lang="en">Validated</Name> | 329559 | ············<Name·lang="en">Validated</Name> |
| 329845 | ··········</DisorderMappingValidationStatus> | 329560 | ··········</DisorderMappingValidationStatus> |
| 329846 | ········</ExternalReference> | 329561 | ········</ExternalReference> |
| 329847 | ········<ExternalReference·id="112364"> | 329562 | ········<ExternalReference·id="200335"> |
| 329848 | ··········<Source>ICD-10</Source> | 329563 | ··········<Source>ICD-10</Source> |
| 329849 | ··········<Reference>C83.7</Reference> | 329564 | ··········<Reference>C83.7</Reference> |
| 329850 | ··········<DisorderMappingRelation·id="21527"> | 329565 | ··········<DisorderMappingRelation·id="21541"> |
| 329851 | ············<Name·lang="en">E·(Exact·mapping:·the·two·concepts·are·equivalent)</Name> | 329566 | ············<Name·lang="en">BTNT·(ORPHA·code's·Broader·Term·maps·to·a·Narrower·Term)</Name> |
| 329852 | ··········</DisorderMappingRelation> | 329567 | ··········</DisorderMappingRelation> |
| 329853 | ··········<DisorderMappingICDRelation·id="21583"> | 329568 | ··········<DisorderMappingICDRelation·id="21583"> |
| 329854 | ············<Name·lang="en">Specific·code·(The·ORPHA·code·has·its·own·code·in·the·ICD10)</Name> | 329569 | ············<Name·lang="en">Specific·code·(The·ORPHA·code·has·its·own·code·in·the·ICD10)</Name> |
| ⋮ | ⋮ |
| 330762 | ··········</DisorderMappingValidationStatus> | 330477 | ··········</DisorderMappingValidationStatus> |
| 330763 | ········</ExternalReference> | 330478 | ········</ExternalReference> |
| 330764 | ······</ExternalReferenceList> | 330479 | ······</ExternalReferenceList> |
| 330765 | ······<DisorderDisorderAssociationList·count="0"> | 330480 | ······<DisorderDisorderAssociationList·count="1"> |
| | 330481 | ········<DisorderDisorderAssociation> |
| | 330482 | ··········<TargetDisorder·id="19029"·cycle="true"/> |
| | 330483 | ··········<RootDisorder·id="19034"> |
| | 330484 | ············<OrphaCode>226310</OrphaCode> |
| | 330485 | ············<Name·lang="en">OBSOLETE:·Peripheral·hypothyroidism</Name> |
| | 330486 | ··········</RootDisorder> |
| | 330487 | ··········<DisorderDisorderAssociationType·id="27341"> |
| | 330488 | ············<Name·lang="en">Referred·to</Name> |
| | 330489 | ··········</DisorderDisorderAssociationType> |
| | 330490 | ········</DisorderDisorderAssociation> |
| 330766 | ······</DisorderDisorderAssociationList> | 330491 | ······</DisorderDisorderAssociationList> |
| 330767 | ······<SummaryInformationList·count="1"> | 330492 | ······<SummaryInformationList·count="1"> |
| 330768 | ········<SummaryInformation·id="60356"·lang="en"> | 330493 | ········<SummaryInformation·id="60356"·lang="en"> |
| ⋮ | ⋮ |
| 332008 | ··········<Value>8192</Value> | 331733 | ··········<Value>8192</Value> |
| 332009 | ··········<Label>Inactive</Label> | 331734 | ··········<Label>Inactive</Label> |
| 332010 | ········</DisorderFlag> | 331735 | ········</DisorderFlag> |
| 332011 | ········<DisorderFlag·id="461"> | 331736 | ········<DisorderFlag·id="455"> |
| 332012 | ··········<Value>1024</Value> | 331737 | ··········<Value>16</Value> |
| 332013 | ··········<Label>Obsolete·with·resources</Label> | 331738 | ··········<Label>Obsolete·entity</Label> |
| 332014 | ········</DisorderFlag> | 331739 | ········</DisorderFlag> |
| 332015 | ······</DisorderFlagList> | 331740 | ······</DisorderFlagList> |
| 332016 | ······<SynonymList·count="0"> | 331741 | ······<SynonymList·count="0"> |
| ⋮ | ⋮ |
| 332023 | ······</DisorderGroup> | 331748 | ······</DisorderGroup> |
| 332024 | ······<ExternalReferenceList·count="0"> | 331749 | ······<ExternalReferenceList·count="0"> |
| 332025 | ······</ExternalReferenceList> | 331750 | ······</ExternalReferenceList> |
| 332026 | ······<DisorderDisorderAssociationList·count="0"> | 331751 | ······<DisorderDisorderAssociationList·count="1"> |
| | 331752 | ········<DisorderDisorderAssociation> |
| | 331753 | ··········<TargetDisorder·id="19029"> |
| | 331754 | ············<OrphaCode>226292</OrphaCode> |
| | 331755 | ············<Name·lang="en">Permanent·congenital·hypothyroidism</Name> |
| | 331756 | ··········</TargetDisorder> |
| | 331757 | ··········<RootDisorder·id="19034"·cycle="true"/> |
| | 331758 | ··········<DisorderDisorderAssociationType·id="27341"> |
| | 331759 | ············<Name·lang="en">Referred·to</Name> |
| | 331760 | ··········</DisorderDisorderAssociationType> |
| | 331761 | ········</DisorderDisorderAssociation> |
| 332027 | ······</DisorderDisorderAssociationList> | 331762 | ······</DisorderDisorderAssociationList> |
| 332028 | ······<SummaryInformationList·count="0"> | 331763 | ······<SummaryInformationList·count="1"> |
| | 331764 | ········<SummaryInformation·id="-1"·lang="en"> |
| | 331765 | ··········<TextSectionList·count="0"> |
| | 331766 | ··········</TextSectionList> |
| | 331767 | ··········<TextAuto> |
| | 331768 | ············<Info·lang="en">This·entity·has·been·obsoleted·from·the·Orphanet·nomenclature·of·rare·diseases.<br/><br/>This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.<br/><br/>Instead,·consider·using··Permanent·congenital·hypothyroidism</Info> |
| | 331769 | ··········</TextAuto> |
| | 331770 | ········</SummaryInformation> |
| 332029 | ······</SummaryInformationList> | 331771 | ······</SummaryInformationList> |
| 332030 | ····</Disorder> | 331772 | ····</Disorder> |
| 332031 | ····<Disorder·id="3739"> | 331773 | ····<Disorder·id="3739"> |
| ⋮ | ⋮ |
| 336841 | ··············<TextSectionType·id="16907"> | 336583 | ··············<TextSectionType·id="16907"> |
| 336842 | ················<Name·lang="en">Definition</Name> | 336584 | ················<Name·lang="en">Definition</Name> |
| 336843 | ··············</TextSectionType> | 336585 | ··············</TextSectionType> |
| 336844 | ··············<Contents>An·extremely·rare,·acquired,·dermis·elastic·tissue·disorder·characterized·by·localized·increased·skin·laxity·associated·with·delayed·skin·recoil,·typically·ocurring·on·the·elbows,·knees·and/or·neck.·Histologically,·focal·abundace·of·elastic·tissue·in·the·dermis·with·pleomorphic·and·fragmented·elastic·fibers,·without·calcification,·is·observed.</Contents> | 336586 | ··············<Contents>An·extremely·rare,·acquired,·dermis·elastic·tissue·disorder·characterized·by·localized·increased·skin·laxity·associated·with·delayed·skin·recoil,·typically·occurring·on·the·elbows,·knees·and/or·neck.·Histologically,·focal·abundace·of·elastic·tissue·in·the·dermis·with·pleomorphic·and·fragmented·elastic·fibers,·without·calcification,·is·observed.</Contents> |
| 336845 | ············</TextSection> | 336587 | ············</TextSection> |
| 336846 | ··········</TextSectionList> | 336588 | ··········</TextSectionList> |
| 336847 | ········</SummaryInformation> | 336589 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 343509 | ··············<TextSectionType·id="16907"> | 343251 | ··············<TextSectionType·id="16907"> |
| 343510 | ················<Name·lang="en">Definition</Name> | 343252 | ················<Name·lang="en">Definition</Name> |
| 343511 | ··············</TextSectionType> | 343253 | ··············</TextSectionType> |
| 343512 | ··············<Contents>A·rare,·systemic·disease·with·skin·involvement·characterized·by·the·onset·of·idiopathic·lupus·erythematosus-like·signs·and·symptoms·resulting·from·continuous·drug·intake·(>1·month),·which·resolve·when·treatment·is·discontinued,·in·persons·with·no·history·of·autoimmune·disease.·Manifestations·are·variable·and·may·be·systemic·(e.g.·arthralgia,·myalgia,·fever,·fatigue,·serositis,·pleuritis,·pericarditis),·subacute·cutaneous·(incl.·photosensitive,·non-scarring,·annular,·polycyclic·or·papulosquamous·lesions,·malar·erythema,·vasculitis,·bullous·lesions,·erythema·multiforme-like·changes),·and/or·chronic·cutaneous·(typically·discoid·lesions·in·sun-exposed·areas).·Procainamide·and·hydrazaline·are·the·drugs·most·frequently·implicated.</Contents> | 343254 | ··············<Contents>A·rare,·systemic·disease·with·skin·involvement·characterized·by·the·onset·of·idiopathic·lupus·erythematosus-like·signs·and·symptoms·resulting·from·continuous·drug·intake·(>1·month),·which·resolve·when·treatment·is·discontinued,·in·persons·with·no·history·of·autoimmune·disease.·Manifestations·are·variable·and·may·be·systemic·(e.g.·arthralgia,·myalgia,·fever,·fatigue,·serositis,·pleuritis,·pericarditis),·subacute·cutaneous·(incl.·photosensitive,·non-scarring,·annular,·polycyclic·or·papulosquamous·lesions,·malar·erythema,·vasculitis,·bullous·lesions,·erythema·multiforme-like·changes),·and/or·chronic·cutaneous·(typically·discoid·lesions·in·sun-exposed·areas).·Procainamide·and·hydralazine·are·the·drugs·most·frequently·implicated.</Contents> |
| 343513 | ············</TextSection> | 343255 | ············</TextSection> |
| 343514 | ··········</TextSectionList> | 343256 | ··········</TextSectionList> |
| 343515 | ········</SummaryInformation> | 343257 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 347481 | ······</ExternalReferenceList> | 347223 | ······</ExternalReferenceList> |
| 347482 | ······<DisorderDisorderAssociationList·count="0"> | 347224 | ······<DisorderDisorderAssociationList·count="0"> |
| 347483 | ······</DisorderDisorderAssociationList> | 347225 | ······</DisorderDisorderAssociationList> |
| 347484 | ······<SummaryInformationList·count="1"> | 347226 | ······<SummaryInformationList·count="0"> |
| 347485 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 347486 | ··········<TextSectionList·count="0"> | |
| 347487 | ··········</TextSectionList> | |
| 347488 | ··········<TextAuto> | |
| 347489 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 347490 | ··········</TextAuto> | |
| 347491 | ········</SummaryInformation> | |
| 347492 | ······</SummaryInformationList> | 347227 | ······</SummaryInformationList> |
| 347493 | ····</Disorder> | 347228 | ····</Disorder> |
| 347494 | ····<Disorder·id="19297"> | 347229 | ····<Disorder·id="19297"> |
| ⋮ | ⋮ |
| 347526 | ······</ExternalReferenceList> | 347261 | ······</ExternalReferenceList> |
| 347527 | ······<DisorderDisorderAssociationList·count="0"> | 347262 | ······<DisorderDisorderAssociationList·count="0"> |
| 347528 | ······</DisorderDisorderAssociationList> | 347263 | ······</DisorderDisorderAssociationList> |
| 347529 | ······<SummaryInformationList·count="1"> | 347264 | ······<SummaryInformationList·count="0"> |
| 347530 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 347531 | ··········<TextSectionList·count="0"> | |
| 347532 | ··········</TextSectionList> | |
| 347533 | ··········<TextAuto> | |
| 347534 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 347535 | ··········</TextAuto> | |
| 347536 | ········</SummaryInformation> | |
| 347537 | ······</SummaryInformationList> | 347265 | ······</SummaryInformationList> |
| 347538 | ····</Disorder> | 347266 | ····</Disorder> |
| 347539 | ····<Disorder·id="19298"> | 347267 | ····<Disorder·id="19298"> |
| ⋮ | ⋮ |
| 350517 | ······</ExternalReferenceList> | 350245 | ······</ExternalReferenceList> |
| 350518 | ······<DisorderDisorderAssociationList·count="0"> | 350246 | ······<DisorderDisorderAssociationList·count="0"> |
| 350519 | ······</DisorderDisorderAssociationList> | 350247 | ······</DisorderDisorderAssociationList> |
| 350520 | ······<SummaryInformationList·count="1"> | 350248 | ······<SummaryInformationList·count="0"> |
| 350521 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 350522 | ··········<TextSectionList·count="0"> | |
| 350523 | ··········</TextSectionList> | |
| 350524 | ··········<TextAuto> | |
| 350525 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 350526 | ··········</TextAuto> | |
| 350527 | ········</SummaryInformation> | |
| 350528 | ······</SummaryInformationList> | 350249 | ······</SummaryInformationList> |
| 350529 | ····</Disorder> | 350250 | ····</Disorder> |
| 350530 | ····<Disorder·id="21992"> | 350251 | ····<Disorder·id="21992"> |
| ⋮ | ⋮ |
| 351158 | ··········<Label></Label> | 350879 | ··········<Label></Label> |
| 351159 | ········</DisorderFlag> | 350880 | ········</DisorderFlag> |
| 351160 | ······</DisorderFlagList> | 350881 | ······</DisorderFlagList> |
| 351161 | ······<SynonymList·count="5"> | 350882 | ······<SynonymList·count="4"> |
| 351162 | ········<Synonym·lang="en">ATTRwt·amyloidosis</Synonym> | 350883 | ········<Synonym·lang="en">ATTRwt·amyloidosis</Synonym> |
| 351163 | ········<Synonym·lang="en">ATTRwt-related·amyloidosis</Synonym> | 350884 | ········<Synonym·lang="en">ATTRwt-related·amyloidosis</Synonym> |
| 351164 | ········<Synonym·lang="en">SSA</Synonym> | |
| 351165 | ········<Synonym·lang="en">Senile·systemic·amyloidosis</Synonym> | 350885 | ········<Synonym·lang="en">Senile·systemic·amyloidosis</Synonym> |
| 351166 | ········<Synonym·lang="en">Wild·type·ATTR-related·amyloidosis</Synonym> | 350886 | ········<Synonym·lang="en">Wild·type·ATTR-related·amyloidosis</Synonym> |
| 351167 | ······</SynonymList> | 350887 | ······</SynonymList> |
| ⋮ | ⋮ |
| 351195 | ··············<TextSectionType·id="16907"> | 350915 | ··············<TextSectionType·id="16907"> |
| 351196 | ················<Name·lang="en">Definition</Name> | 350916 | ················<Name·lang="en">Definition</Name> |
| 351197 | ··············</TextSectionType> | 350917 | ··············</TextSectionType> |
| 351198 | ··············<Contents>A·rare·systemic·amyloidosis·characterized·by·combination·of·various·symptoms,·depending·on·the·organ·involved.·Common·clinical·features·are·cardiac·failure,·cardiac·conduction·anomalies·or·arrhythmia,·renal·dysfunction,·carpal·tunnel·syndrome·and·spinal·canal·stenosis.·Histology·reveals·fibrillary·amyloid·deposition·of·wild·type·transthyretin·mostly·in·the·kidneys,·heart,·gastrointestinal·tract,·skin·and·tenosynovial·tissue.</Contents> | 350918 | ··············<Contents>A·common·form·of·systemic·amyloidosis·characterized·by·deposition·of·wild·type·transthyretin·predominantly·in·the·heart·and·the·soft·tissues·(mainly·the·carpal·tunnel·region,·lumbar·canal·and·tendons).</Contents> |
| 351199 | ············</TextSection> | 350919 | ············</TextSection> |
| 351200 | ··········</TextSectionList> | 350920 | ··········</TextSectionList> |
| 351201 | ········</SummaryInformation> | 350921 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 351476 | ······</ExternalReferenceList> | 351196 | ······</ExternalReferenceList> |
| 351477 | ······<DisorderDisorderAssociationList·count="0"> | 351197 | ······<DisorderDisorderAssociationList·count="0"> |
| 351478 | ······</DisorderDisorderAssociationList> | 351198 | ······</DisorderDisorderAssociationList> |
| 351479 | ······<SummaryInformationList·count="1"> | 351199 | ······<SummaryInformationList·count="0"> |
| 351480 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 351481 | ··········<TextSectionList·count="0"> | |
| 351482 | ··········</TextSectionList> | |
| 351483 | ··········<TextAuto> | |
| 351484 | ············<Info·lang="en">This·disease·is·not·rare·in·Europe.·It·does·not·belong·to·the·Orphanet·nomenclature·of·rare·diseases.</Info> | |
| 351485 | ··········</TextAuto> | |
| 351486 | ········</SummaryInformation> | |
| 351487 | ······</SummaryInformationList> | 351200 | ······</SummaryInformationList> |
| 351488 | ····</Disorder> | 351201 | ····</Disorder> |
| 351489 | ····<Disorder·id="21957"> | 351202 | ····<Disorder·id="21957"> |
| ⋮ | ⋮ |
| 352761 | ······</ExternalReferenceList> | 352474 | ······</ExternalReferenceList> |
| 352762 | ······<DisorderDisorderAssociationList·count="0"> | 352475 | ······<DisorderDisorderAssociationList·count="0"> |
| 352763 | ······</DisorderDisorderAssociationList> | 352476 | ······</DisorderDisorderAssociationList> |
| 352764 | ······<SummaryInformationList·count="1"> | 352477 | ······<SummaryInformationList·count="0"> |
| 352765 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 352766 | ··········<TextSectionList·count="0"> | |
| 352767 | ··········</TextSectionList> | |
| 352768 | ··········<TextAuto> | |
| 352769 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 352770 | ··········</TextAuto> | |
| 352771 | ········</SummaryInformation> | |
| 352772 | ······</SummaryInformationList> | 352478 | ······</SummaryInformationList> |
| 352773 | ····</Disorder> | 352479 | ····</Disorder> |
| 352774 | ····<Disorder·id="21947"> | 352480 | ····<Disorder·id="21947"> |
| ⋮ | ⋮ |
| 354142 | ··············<TextSectionType·id="16907"> | 353848 | ··············<TextSectionType·id="16907"> |
| 354143 | ················<Name·lang="en">Definition</Name> | 353849 | ················<Name·lang="en">Definition</Name> |
| 354144 | ··············</TextSectionType> | 353850 | ··············</TextSectionType> |
| 354145 | ··············<Contents>Congenital·muscular·dystrophy·with·intellectual·disability·and·severe·epilepsy·is·a·rare,·fatal,·inborn·error·of·metabolism·disorder·characterized·by·respiratory·distress·and·severe·hypotonia·at·birth,·severe·global·developmental·delay,·early-onset·intractable·seizures,·myopathic·fascies·with·craniofacial·dysmorphism·(trigonocephaly/progressive·microcephaly,·low·anterior·hairline,·arched·eyebrows,·hypotelorism,·strabismus,·small·nose,·prominent·philtrum,·thin·upper·lip,·high-arched·palate,·micrognathia,·malocclusion),·severe,·congenital·flexion·joint·contractures·and·elevated·serum·creatine·kinase·levels.·Scoliosis,·optic·atrophy,·mild·hepatomegaly,·and·hypoplastic·genitalia·may·also·be·associated.</Contents> | 353851 | ··············<Contents>Congenital·muscular·dystrophy·with·intellectual·disability·and·severe·epilepsy·is·a·rare,·fatal,·inborn·error·of·metabolism·disorder·characterized·by·respiratory·distress·and·severe·hypotonia·at·birth,·severe·global·developmental·delay,·early-onset·intractable·seizures,·myopathic·facies·with·craniofacial·dysmorphism·(trigonocephaly/progressive·microcephaly,·low·anterior·hairline,·arched·eyebrows,·hypotelorism,·strabismus,·small·nose,·prominent·philtrum,·thin·upper·lip,·high-arched·palate,·micrognathia,·malocclusion),·severe,·congenital·flexion·joint·contractures·and·elevated·serum·creatine·kinase·levels.·Scoliosis,·optic·atrophy,·mild·hepatomegaly,·and·hypoplastic·genitalia·may·also·be·associated.</Contents> |
| 354146 | ············</TextSection> | 353852 | ············</TextSection> |
| 354147 | ··········</TextSectionList> | 353853 | ··········</TextSectionList> |
| 354148 | ········</SummaryInformation> | 353854 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 355425 | ··············<TextSectionType·id="16907"> | 355131 | ··············<TextSectionType·id="16907"> |
| 355426 | ················<Name·lang="en">Definition</Name> | 355132 | ················<Name·lang="en">Definition</Name> |
| 355427 | ··············</TextSectionType> | 355133 | ··············</TextSectionType> |
| 355428 | ··············<Contents>A·rare·46,XY·disorder·of·gonadal·development·characterized·by·congenital·complete·absence·of·testicular·tissue·in·an·individual·with·an·otherwise·normal·male·phenotype·and·normal·karyotype.·In·addition,·a·small·penis·is·a·frequent·finding·in·anorchid·patients.·Typical·hormonal·characteristics·are·elevated·basal·levels·of·gonadotropins·(especially·FSH),·low·concentration·of·testosterone,·and·lack·of·increase·of·plasma·testosterone·in·response·to·hCG·administration.·The·GnRH·test·induces·a·prolonged·increase·in·FSH·and·LH·levels.</Contents> | 355134 | ··············<Contents>A·rare·46,XY·disorder·of·gonadal·development·characterized·by·congenital·complete·absence·of·testicular·tissue·in·an·individual·with·an·otherwise·normal·male·phenotype·and·normal·karyotype.·In·addition,·a·small·penis·is·a·frequent·finding·in·anorchid·patients.·Typical·hormonal·characteristics·are·elevated·basal·levels·of·gonadotropins·(especially·FSH),·low·concentration·of·testosterone,·and·lack·of·increase·of·plasma·testosterone·in·response·to·hCG·administration.·The·GnRH·stimulation·test·induces·a·prolonged·increase·in·FSH·and·LH·levels.</Contents> |
| 355429 | ············</TextSection> | 355135 | ············</TextSection> |
| 355430 | ··········</TextSectionList> | 355136 | ··········</TextSectionList> |
| 355431 | ········</SummaryInformation> | 355137 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 356531 | ··············<TextSectionType·id="16907"> | 356237 | ··············<TextSectionType·id="16907"> |
| 356532 | ················<Name·lang="en">Definition</Name> | 356238 | ················<Name·lang="en">Definition</Name> |
| 356533 | ··············</TextSectionType> | 356239 | ··············</TextSectionType> |
| 356534 | ··············<Contents>Mixed·autoinflammatory·and·autoimmune·syndrome·is·a·group·of·systemic·diseases·characterized·by·mixed·patterns·of·dysregulated·innate·and/or·adaptive·immune·responses,·leading·to·chronic·activation·of·the·immune·system·and·tissue·inflammation,·which·presents·clincially·with·a·wide·range·of·variable,·concomitant,·autoimmune·and·autoinflammatory·manifestations·in·various·organ·systems.</Contents> | 356240 | ··············<Contents>Mixed·autoinflammatory·and·autoimmune·syndrome·is·a·group·of·systemic·diseases·characterized·by·mixed·patterns·of·dysregulated·innate·and/or·adaptive·immune·responses,·leading·to·chronic·activation·of·the·immune·system·and·tissue·inflammation,·which·presents·clincally·with·a·wide·range·of·variable,·concomitant,·autoimmune·and·autoinflammatory·manifestations·in·various·organ·systems.</Contents> |
| 356535 | ············</TextSection> | 356241 | ············</TextSection> |
| 356536 | ··········</TextSectionList> | 356242 | ··········</TextSectionList> |
| 356537 | ········</SummaryInformation> | 356243 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 363133 | ······</ExternalReferenceList> | 362839 | ······</ExternalReferenceList> |
| 363134 | ······<DisorderDisorderAssociationList·count="0"> | 362840 | ······<DisorderDisorderAssociationList·count="0"> |
| 363135 | ······</DisorderDisorderAssociationList> | 362841 | ······</DisorderDisorderAssociationList> |
| 363136 | ······<SummaryInformationList·count="1"> | 362842 | ······<SummaryInformationList·count="0"> |
| 363137 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 363138 | ··········<TextSectionList·count="0"> | |
| 363139 | ··········</TextSectionList> | |
| 363140 | ··········<TextAuto> | |
| 363141 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 363142 | ··········</TextAuto> | |
| 363143 | ········</SummaryInformation> | |
| 363144 | ······</SummaryInformationList> | 362843 | ······</SummaryInformationList> |
| 363145 | ····</Disorder> | 362844 | ····</Disorder> |
| 363146 | ····<Disorder·id="21650"> | 362845 | ····<Disorder·id="21650"> |
| ⋮ | ⋮ |
| 365749 | ······<DisorderDisorderAssociationList·count="0"> | 365448 | ······<DisorderDisorderAssociationList·count="0"> |
| 365750 | ······</DisorderDisorderAssociationList> | 365449 | ······</DisorderDisorderAssociationList> |
| 365751 | ······<SummaryInformationList·count="1"> | 365450 | ······<SummaryInformationList·count="1"> |
| 365752 | ········<SummaryInformation·id="78133"·lang="en"> | 365451 | ········<SummaryInformation·id="-1"·lang="en"> |
| 365753 | ··········<TextSectionList·count="1"> | 365452 | ··········<TextSectionList·count="0"> |
| 365754 | ············<TextSection·id="94703"·lang="en"> | |
| 365755 | ··············<TextSectionType·id="16907"> | |
| 365756 | ················<Name·lang="en">Definition</Name> | |
| 365757 | ··············</TextSectionType> | |
| 365758 | ··············<Contents>Primary·systemic·amyloidosis·(PSA)·is·a·form·of·AL·amyloidosis·(see·this·term)·caused·by·the·aggregation·and·deposition·of·insoluble·amyloid·fibrils·derived·from·misfolded·monoclonal·immunoglobulin·light·chains·usually·produced·by·a·plasma·cell·tumor·(see·this·term)·and·characterized·by·multiple·organ·involvement.</Contents> | |
| 365759 | ············</TextSection> | |
| 365760 | ··········</TextSectionList> | 365453 | ··········</TextSectionList> |
| | 365454 | ··········<TextAuto> |
| | 365455 | ············<Info·lang="en">This·disease·is·described·under··AL·amyloidosis</Info> |
| | 365456 | ··········</TextAuto> |
| 365761 | ········</SummaryInformation> | 365457 | ········</SummaryInformation> |
| 365762 | ······</SummaryInformationList> | 365458 | ······</SummaryInformationList> |
| 365763 | ····</Disorder> | 365459 | ····</Disorder> |
| ⋮ | ⋮ |
| 365864 | ········</DisorderDisorderAssociation> | 365560 | ········</DisorderDisorderAssociation> |
| 365865 | ······</DisorderDisorderAssociationList> | 365561 | ······</DisorderDisorderAssociationList> |
| 365866 | ······<SummaryInformationList·count="1"> | 365562 | ······<SummaryInformationList·count="1"> |
| 365867 | ········<SummaryInformation·id="78134"·lang="en"> | 365563 | ········<SummaryInformation·id="-1"·lang="en"> |
| 365868 | ··········<TextSectionList·count="1"> | 365564 | ··········<TextSectionList·count="0"> |
| 365869 | ············<TextSection·id="94704"·lang="en"> | |
| 365870 | ··············<TextSectionType·id="16907"> | |
| 365871 | ················<Name·lang="en">Definition</Name> | |
| 365872 | ··············</TextSectionType> | |
| 365873 | ··············<Contents>A·form·of·AL·amyloidosis·characterized·by·localized·deposition·of·insoluble·amyloid·fibrils·derived·from·misfolded·monoclonal·immunoglobulin·light·chains·usually·produced·by·a·plasma·cell·tumor.·Clinical·manifestations·are·restricted·to·the·organ·involved,·most·frequently·urinary·tract·(bladder),·eye,·respiratory·tract·(larynx,·lungs),·and·skin.</Contents> | |
| 365874 | ············</TextSection> | |
| 365875 | ··········</TextSectionList> | 365565 | ··········</TextSectionList> |
| | 365566 | ··········<TextAuto> |
| | 365567 | ············<Info·lang="en">This·disease·is·described·under··AL·amyloidosis</Info> |
| | 365568 | ··········</TextAuto> |
| 365876 | ········</SummaryInformation> | 365569 | ········</SummaryInformation> |
| 365877 | ······</SummaryInformationList> | 365570 | ······</SummaryInformationList> |
| 365878 | ····</Disorder> | 365571 | ····</Disorder> |
| ⋮ | ⋮ |
| 369762 | ··············<TextSectionType·id="16907"> | 369455 | ··············<TextSectionType·id="16907"> |
| 369763 | ················<Name·lang="en">Definition</Name> | 369456 | ················<Name·lang="en">Definition</Name> |
| 369764 | ··············</TextSectionType> | 369457 | ··············</TextSectionType> |
| 369765 | ··············<Contents>Congenital·muscular·dystrophy·with·cerebellar·involvement·is·a·rare,·congenital·muscular·dystrophy·due·to·dystroglycanopathy·characterized·by·proximal·muscule·weakness·with·a·tendency·for·muscle·hypertrophy·and·pseudohypertrophy,·variable·cognitive·impairment,·microcephaly,·cerebellar·hypoplasia·with·or·without·cysts,·and·other·structural·brain·anomalies.</Contents> | 369458 | ··············<Contents>Congenital·muscular·dystrophy·with·cerebellar·involvement·is·a·rare,·congenital·muscular·dystrophy·due·to·dystroglycanopathy·characterized·by·proximal·muscle·weakness·with·a·tendency·for·muscle·hypertrophy·and·pseudohypertrophy,·variable·cognitive·impairment,·microcephaly,·cerebellar·hypoplasia·with·or·without·cysts,·and·other·structural·brain·anomalies.</Contents> |
| 369766 | ············</TextSection> | 369459 | ············</TextSection> |
| 369767 | ··········</TextSectionList> | 369460 | ··········</TextSectionList> |
| 369768 | ········</SummaryInformation> | 369461 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 376462 | ······</ExternalReferenceList> | 376155 | ······</ExternalReferenceList> |
| 376463 | ······<DisorderDisorderAssociationList·count="0"> | 376156 | ······<DisorderDisorderAssociationList·count="0"> |
| 376464 | ······</DisorderDisorderAssociationList> | 376157 | ······</DisorderDisorderAssociationList> |
| 376465 | ······<SummaryInformationList·count="1"> | 376158 | ······<SummaryInformationList·count="0"> |
| 376466 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 376467 | ··········<TextSectionList·count="0"> | |
| 376468 | ··········</TextSectionList> | |
| 376469 | ··········<TextAuto> | |
| 376470 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 376471 | ··········</TextAuto> | |
| 376472 | ········</SummaryInformation> | |
| 376473 | ······</SummaryInformationList> | 376159 | ······</SummaryInformationList> |
| 376474 | ····</Disorder> | 376160 | ····</Disorder> |
| 376475 | ····<Disorder·id="22312"> | 376161 | ····<Disorder·id="22312"> |
| ⋮ | ⋮ |
| 377964 | ··············<TextSectionType·id="16907"> | 377650 | ··············<TextSectionType·id="16907"> |
| 377965 | ················<Name·lang="en">Definition</Name> | 377651 | ················<Name·lang="en">Definition</Name> |
| 377966 | ··············</TextSectionType> | 377652 | ··············</TextSectionType> |
| 377967 | ··············<Contents>A·rare,·genetic,·syndromic·intellectual·disability·disorder·characterized·by·variable·degrees·of·intellectual·disability,·behavioral·problems·(including·attention·deficit·and·hyperactivity·disorder,·autism·spectrum·disorder,·and·aggressiveness),·an·altered·sleeping·pattern,·and·delayed·speech·and·language·development·associated·with·disruption·of·ankryin-3·(<i>ANK3</i>·gene).·Additional·features·observed·may·incude·muscular·hypotonia·and·spasticity.·Epilepsy,·chronic·hunger,·and·dysmorphic·facial·features·have·been·reported.</Contents> | 377653 | ··············<Contents>A·rare,·genetic,·syndromic·intellectual·disability·disorder·characterized·by·variable·degrees·of·intellectual·disability,·behavioral·problems·(including·attention·deficit·and·hyperactivity·disorder,·autism·spectrum·disorder,·and·aggressiveness),·an·altered·sleeping·pattern,·and·delayed·speech·and·language·development·associated·with·disruption·of·ankryin-3·(<i>ANK3</i>·gene).·Additional·features·observed·may·include·muscular·hypotonia·and·spasticity.·Epilepsy,·chronic·hunger,·and·dysmorphic·facial·features·have·been·reported.</Contents> |
| 377968 | ············</TextSection> | 377654 | ············</TextSection> |
| 377969 | ··········</TextSectionList> | 377655 | ··········</TextSectionList> |
| 377970 | ········</SummaryInformation> | 377656 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 380790 | ······<OrphaCode>352740</OrphaCode> | 380476 | ······<OrphaCode>352740</OrphaCode> |
| 380791 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352740</ExpertLink> | 380477 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352740</ExpertLink> |
| 380792 | ······<Name·lang="en">Ocular·albinism·with·congenital·sensorineural·deafness</Name> | 380478 | ······<Name·lang="en">Ocular·albinism·with·congenital·sensorineural·deafness</Name> |
| 380793 | ······<DisorderFlagList·count="1"> | 380479 | ······<DisorderFlagList·count="3"> |
| | 380480 | ········<DisorderFlag·id="495"> |
| | 380481 | ··········<Value>8192</Value> |
| | 380482 | ··········<Label>Inactive</Label> |
| | 380483 | ········</DisorderFlag> |
| | 380484 | ········<DisorderFlag·id="459"> |
| | 380485 | ··········<Value>256</Value> |
| | 380486 | ··········<Label>Deprecated·entity</Label> |
| | 380487 | ········</DisorderFlag> |
| 380794 | ········<DisorderFlag·id="475"> | 380488 | ········<DisorderFlag·id="475"> |
| 380795 | ··········<Value>1</Value> | 380489 | ··········<Value>1</Value> |
| 380796 | ··········<Label></Label> | 380490 | ··········<Label></Label> |
| ⋮ | ⋮ |
| 380808 | ······</DisorderGroup> | 380502 | ······</DisorderGroup> |
| 380809 | ······<ExternalReferenceList·count="0"> | 380503 | ······<ExternalReferenceList·count="0"> |
| 380810 | ······</ExternalReferenceList> | 380504 | ······</ExternalReferenceList> |
| 380811 | ······<DisorderDisorderAssociationList·count="0"> | 380505 | ······<DisorderDisorderAssociationList·count="1"> |
| | 380506 | ········<DisorderDisorderAssociation> |
| | 380507 | ··········<TargetDisorder·id="220"> |
| | 380508 | ············<OrphaCode>895</OrphaCode> |
| | 380509 | ············<Name·lang="en">Waardenburg·syndrome·type·2</Name> |
| | 380510 | ··········</TargetDisorder> |
| | 380511 | ··········<RootDisorder·id="22112"·cycle="true"/> |
| | 380512 | ··········<DisorderDisorderAssociationType·id="21471"> |
| | 380513 | ············<Name·lang="en">Moved·to</Name> |
| | 380514 | ··········</DisorderDisorderAssociationType> |
| | 380515 | ········</DisorderDisorderAssociation> |
| 380812 | ······</DisorderDisorderAssociationList> | 380516 | ······</DisorderDisorderAssociationList> |
| 380813 | ······<SummaryInformationList·count="0"> | 380517 | ······<SummaryInformationList·count="1"> |
| | 380518 | ········<SummaryInformation·id="-1"·lang="en"> |
| | 380519 | ··········<TextSectionList·count="0"> |
| | 380520 | ··········</TextSectionList> |
| | 380521 | ··········<TextAuto> |
| | 380522 | ············<Info·lang="en">This·entity·has·been·excluded·from·the·Orphanet·nomenclature·of·rare·diseases·and·moved·to··Waardenburg·syndrome·type·2</Info> |
| | 380523 | ··········</TextAuto> |
| | 380524 | ········</SummaryInformation> |
| 380814 | ······</SummaryInformationList> | 380525 | ······</SummaryInformationList> |
| 380815 | ····</Disorder> | 380526 | ····</Disorder> |
| 380816 | ····<Disorder·id="22142"> | 380527 | ····<Disorder·id="22142"> |
| ⋮ | ⋮ |
| 394616 | ······</ExternalReferenceList> | 394327 | ······</ExternalReferenceList> |
| 394617 | ······<DisorderDisorderAssociationList·count="0"> | 394328 | ······<DisorderDisorderAssociationList·count="0"> |
| 394618 | ······</DisorderDisorderAssociationList> | 394329 | ······</DisorderDisorderAssociationList> |
| 394619 | ······<SummaryInformationList·count="1"> | 394330 | ······<SummaryInformationList·count="0"> |
| 394620 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 394621 | ··········<TextSectionList·count="0"> | |
| 394622 | ··········</TextSectionList> | |
| 394623 | ··········<TextAuto> | |
| 394624 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 394625 | ··········</TextAuto> | |
| 394626 | ········</SummaryInformation> | |
| 394627 | ······</SummaryInformationList> | 394331 | ······</SummaryInformationList> |
| 394628 | ····</Disorder> | 394332 | ····</Disorder> |
| 394629 | ····<Disorder·id="20629"> | 394333 | ····<Disorder·id="20629"> |
| ⋮ | ⋮ |
| 394836 | ··············<TextSectionType·id="16907"> | 394540 | ··············<TextSectionType·id="16907"> |
| 394837 | ················<Name·lang="en">Definition</Name> | 394541 | ················<Name·lang="en">Definition</Name> |
| 394838 | ··············</TextSectionType> | 394542 | ··············</TextSectionType> |
| 394839 | ··············<Contents>A·rare,·genetic,·systemic·disease·characterized·by·the·presence·of·arterial·aneurysms,·tortuosity·and·dissection·throughout·the·arterial·tree,·associated·with·early-onset·osteoarthritis·(predominantly·affecting·the·spine,·hands·and/or·wrists,·and·knees)·and·mild·craniofacial·dysmorphism·(incl.·long·face,·high·forehead,·flat·supraorbital·ridges,·hypertelorism,·malar·hypoplasia·and,·a·raphe,·broad·or·bifid·uvula),·as·well·as·mild·skeletal·and·cutaneous·anomalies.·Joint·abnormalities,·such·as·osteochondritis·dissecans·and·intervertebral·disc·degeneration,·are·frequently·associated.·Additonal·cardiovascular·anomalies·may·include·mitral·valve·defects,·congenital·heart·malformations,·ventricular·hypertrophy·and·atrial·fibrillation.</Contents> | 394543 | ··············<Contents>A·rare,·genetic,·systemic·disease·characterized·by·the·presence·of·arterial·aneurysms,·tortuosity·and·dissection·throughout·the·arterial·tree,·associated·with·early-onset·osteoarthritis·(predominantly·affecting·the·spine,·hands·and/or·wrists,·and·knees)·and·mild·craniofacial·dysmorphism·(incl.·long·face,·high·forehead,·flat·supraorbital·ridges,·hypertelorism,·malar·hypoplasia·and,·a·raphe,·broad·or·bifid·uvula),·as·well·as·mild·skeletal·and·cutaneous·anomalies.·Joint·abnormalities,·such·as·osteochondritis·dissecans·and·intervertebral·disc·degeneration,·are·frequently·associated.·Additional·cardiovascular·anomalies·may·include·mitral·valve·defects,·congenital·heart·malformations,·ventricular·hypertrophy·and·atrial·fibrillation.</Contents> |
| 394840 | ············</TextSection> | 394544 | ············</TextSection> |
| 394841 | ··········</TextSectionList> | 394545 | ··········</TextSectionList> |
| 394842 | ········</SummaryInformation> | 394546 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 398315 | ··············<TextSectionType·id="16907"> | 398019 | ··············<TextSectionType·id="16907"> |
| 398316 | ················<Name·lang="en">Definition</Name> | 398020 | ················<Name·lang="en">Definition</Name> |
| 398317 | ··············</TextSectionType> | 398021 | ··············</TextSectionType> |
| 398318 | ··············<Contents>Hemoglobinopathy·Toms·River·is·a·rare,·genetic·hemoglobinopathy·disorder,·due·to·a·defect·in·the·gama·subunit·of·the·fetal·hemoglobin,·characterized·by·neonatal·cyanosis,·low·hemoglobin·oxygen·saturation·levels·without·arterial·hypoxemia,·moderate·anemia·and·reticulocytosis,·not·associated·with·heart·or·lung·disease.·Symptoms·progressively·subside·within·the·first·months·of·life.</Contents> | 398022 | ··············<Contents>Hemoglobinopathy·Toms·River·is·a·rare,·genetic·hemoglobinopathy·disorder,·due·to·a·defect·in·the·gamma·subunit·of·the·fetal·hemoglobin,·characterized·by·neonatal·cyanosis,·low·hemoglobin·oxygen·saturation·levels·without·arterial·hypoxemia,·moderate·anemia·and·reticulocytosis,·not·associated·with·heart·or·lung·disease.·Symptoms·progressively·subside·within·the·first·months·of·life.</Contents> |
| 398319 | ············</TextSection> | 398023 | ············</TextSection> |
| 398320 | ··········</TextSectionList> | 398024 | ··········</TextSectionList> |
| 398321 | ········</SummaryInformation> | 398025 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 398385 | ··············<TextSectionType·id="16907"> | 398089 | ··············<TextSectionType·id="16907"> |
| 398386 | ················<Name·lang="en">Definition</Name> | 398090 | ················<Name·lang="en">Definition</Name> |
| 398387 | ··············</TextSectionType> | 398091 | ··············</TextSectionType> |
| 398388 | ··············<Contents>Hereditary·sensorimotor·neuropathy·with·hyperelastic·skin·is·a·rare,·genetic,·demyelinating·hereditary·motor·and·sensory·neuropathy·disorder·characterized·by·slowly·progressive,·mild·to·moderate,·distal·muscle·weakness·and·atrophy·of·the·upper·and·lower·limbs·and·variable·distal·sensory·impairment,·associated·with·variable·hyperextensible·skin·and·age-related·macular·degeneration.·Hypermobility·of·distal·joints,·high·palate,·and·minor·skeletal·abnormalities·(e.g.·pectus·excavatus,·dolichocephaly)·may·also·be·associated.</Contents> | 398092 | ··············<Contents>Hereditary·sensorimotor·neuropathy·with·hyperelastic·skin·is·a·rare,·genetic,·demyelinating·hereditary·motor·and·sensory·neuropathy·disorder·characterized·by·slowly·progressive,·mild·to·moderate,·distal·muscle·weakness·and·atrophy·of·the·upper·and·lower·limbs·and·variable·distal·sensory·impairment,·associated·with·variable·hyperextensible·skin·and·age-related·macular·degeneration.·Hypermobility·of·distal·joints,·high·palate,·and·minor·skeletal·abnormalities·(e.g.·pectus·excavatum,·dolichocephaly)·may·also·be·associated.</Contents> |
| 398389 | ············</TextSection> | 398093 | ············</TextSection> |
| 398390 | ··········</TextSectionList> | 398094 | ··········</TextSectionList> |
| 398391 | ········</SummaryInformation> | 398095 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 402903 | ··············<TextSectionType·id="16907"> | 402607 | ··············<TextSectionType·id="16907"> |
| 402904 | ················<Name·lang="en">Definition</Name> | 402608 | ················<Name·lang="en">Definition</Name> |
| 402905 | ··············</TextSectionType> | 402609 | ··············</TextSectionType> |
| 402906 | ··············<Contents>High·bone·mass·osteogenesis·imperfecta·is·a·rare,·genetic,·primary·bone·dysplasia·disorder·characterized·by·increased·bone·fragility,·manifesting·with·mutiple,·childhood-onset,·vertebral·and·peripheral·fractures,·associated·with·increased·bone·mass·density·on·radiometric·examination.·Patients·typically·present·normal·or·mild·short·stature·and·dentinogenesis,·hearing,·and·sclerae·are·commonly·normal.</Contents> | 402610 | ··············<Contents>High·bone·mass·osteogenesis·imperfecta·is·a·rare,·genetic,·primary·bone·dysplasia·disorder·characterized·by·increased·bone·fragility,·manifesting·with·multiple,·childhood-onset,·vertebral·and·peripheral·fractures,·associated·with·increased·bone·mass·density·on·radiometric·examination.·Patients·typically·present·normal·or·mild·short·stature·and·dentinogenesis,·hearing,·and·sclerae·are·commonly·normal.</Contents> |
| 402907 | ············</TextSection> | 402611 | ············</TextSection> |
| 402908 | ··········</TextSectionList> | 402612 | ··········</TextSectionList> |
| 402909 | ········</SummaryInformation> | 402613 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 411663 | ··············<TextSectionType·id="16907"> | 411367 | ··············<TextSectionType·id="16907"> |
| 411664 | ················<Name·lang="en">Definition</Name> | 411368 | ················<Name·lang="en">Definition</Name> |
| 411665 | ··············</TextSectionType> | 411369 | ··············</TextSectionType> |
| 411666 | ··············<Contents>A·rare,·genetic·disorder·of·pyrimidine·metabolism·characterized·by·increased·serum·beta-alanine·levels·and·severe·phenotype·including·hypotonia,·malaise,·seizures,·respiratory·distress,·lethargy·and·encephalopahty.·Urinary·excretion·of·beta-alanine,·beta-amino-isobutyric·acid,·taurine,·and·gamma-amino-butyric·acid·is·also·elevated.·There·have·been·no·further·descriptions·in·the·literature·since·1994.</Contents> | 411370 | ··············<Contents>A·rare,·genetic·disorder·of·pyrimidine·metabolism·characterized·by·increased·serum·beta-alanine·levels·and·severe·phenotype·including·hypotonia,·malaise,·seizures,·respiratory·distress,·lethargy·and·encephalopathy.·Urinary·excretion·of·beta-alanine,·beta-amino-isobutyric·acid,·taurine,·and·gamma-amino-butyric·acid·is·also·elevated.·There·have·been·no·further·descriptions·in·the·literature·since·1994.</Contents> |
| 411667 | ············</TextSection> | 411371 | ············</TextSection> |
| 411668 | ··········</TextSectionList> | 411372 | ··········</TextSectionList> |
| 411669 | ········</SummaryInformation> | 411373 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 413489 | ······</ExternalReferenceList> | 413193 | ······</ExternalReferenceList> |
| 413490 | ······<DisorderDisorderAssociationList·count="0"> | 413194 | ······<DisorderDisorderAssociationList·count="0"> |
| 413491 | ······</DisorderDisorderAssociationList> | 413195 | ······</DisorderDisorderAssociationList> |
| 413492 | ······<SummaryInformationList·count="1"> | 413196 | ······<SummaryInformationList·count="0"> |
| 413493 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 413494 | ··········<TextSectionList·count="0"> | |
| 413495 | ··········</TextSectionList> | |
| 413496 | ··········<TextAuto> | |
| 413497 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 413498 | ··········</TextAuto> | |
| 413499 | ········</SummaryInformation> | |
| 413500 | ······</SummaryInformationList> | 413197 | ······</SummaryInformationList> |
| 413501 | ····</Disorder> | 413198 | ····</Disorder> |
| 413502 | ····<Disorder·id="21147"> | 413199 | ····<Disorder·id="21147"> |
| ⋮ | ⋮ |
| 414159 | ······</ExternalReferenceList> | 413856 | ······</ExternalReferenceList> |
| 414160 | ······<DisorderDisorderAssociationList·count="0"> | 413857 | ······<DisorderDisorderAssociationList·count="0"> |
| 414161 | ······</DisorderDisorderAssociationList> | 413858 | ······</DisorderDisorderAssociationList> |
| 414162 | ······<SummaryInformationList·count="1"> | 413859 | ······<SummaryInformationList·count="0"> |
| 414163 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 414164 | ··········<TextSectionList·count="0"> | |
| 414165 | ··········</TextSectionList> | |
| 414166 | ··········<TextAuto> | |
| 414167 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 414168 | ··········</TextAuto> | |
| 414169 | ········</SummaryInformation> | |
| 414170 | ······</SummaryInformationList> | 413860 | ······</SummaryInformationList> |
| 414171 | ····</Disorder> | 413861 | ····</Disorder> |
| 414172 | ····<Disorder·id="21142"> | 413862 | ····<Disorder·id="21142"> |
| ⋮ | ⋮ |
| 414305 | ······</ExternalReferenceList> | 413995 | ······</ExternalReferenceList> |
| 414306 | ······<DisorderDisorderAssociationList·count="0"> | 413996 | ······<DisorderDisorderAssociationList·count="0"> |
| 414307 | ······</DisorderDisorderAssociationList> | 413997 | ······</DisorderDisorderAssociationList> |
| 414308 | ······<SummaryInformationList·count="1"> | 413998 | ······<SummaryInformationList·count="0"> |
| 414309 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 414310 | ··········<TextSectionList·count="0"> | |
| 414311 | ··········</TextSectionList> | |
| 414312 | ··········<TextAuto> | |
| 414313 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 414314 | ··········</TextAuto> | |
| 414315 | ········</SummaryInformation> | |
| 414316 | ······</SummaryInformationList> | 413999 | ······</SummaryInformationList> |
| 414317 | ····</Disorder> | 414000 | ····</Disorder> |
| 414318 | ····<Disorder·id="21184"> | 414001 | ····<Disorder·id="21184"> |
| ⋮ | ⋮ |
| 415695 | ······</ExternalReferenceList> | 415378 | ······</ExternalReferenceList> |
| 415696 | ······<DisorderDisorderAssociationList·count="0"> | 415379 | ······<DisorderDisorderAssociationList·count="0"> |
| 415697 | ······</DisorderDisorderAssociationList> | 415380 | ······</DisorderDisorderAssociationList> |
| 415698 | ······<SummaryInformationList·count="1"> | 415381 | ······<SummaryInformationList·count="0"> |
| 415699 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 415700 | ··········<TextSectionList·count="0"> | |
| 415701 | ··········</TextSectionList> | |
| 415702 | ··········<TextAuto> | |
| 415703 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 415704 | ··········</TextAuto> | |
| 415705 | ········</SummaryInformation> | |
| 415706 | ······</SummaryInformationList> | 415382 | ······</SummaryInformationList> |
| 415707 | ····</Disorder> | 415383 | ····</Disorder> |
| 415708 | ····<Disorder·id="21243"> | 415384 | ····<Disorder·id="21243"> |
| ⋮ | ⋮ |
| 421499 | ··········</DisorderDisorderAssociationType> | 421175 | ··········</DisorderDisorderAssociationType> |
| 421500 | ········</DisorderDisorderAssociation> | 421176 | ········</DisorderDisorderAssociation> |
| 421501 | ······</DisorderDisorderAssociationList> | 421177 | ······</DisorderDisorderAssociationList> |
| 421502 | ······<SummaryInformationList·count="1"> | 421178 | ······<SummaryInformationList·count="0"> |
| 421503 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 421504 | ··········<TextSectionList·count="0"> | |
| 421505 | ··········</TextSectionList> | |
| 421506 | ··········<TextAuto> | |
| 421507 | ············<Info·lang="en">This·disease·is·not·rare·in·Europe.·It·does·not·belong·to·the·Orphanet·nomenclature·of·rare·diseases.</Info> | |
| 421508 | ··········</TextAuto> | |
| 421509 | ········</SummaryInformation> | |
| 421510 | ······</SummaryInformationList> | 421179 | ······</SummaryInformationList> |
| 421511 | ····</Disorder> | 421180 | ····</Disorder> |
| 421512 | ····<Disorder·id="24019"> | 421181 | ····<Disorder·id="24019"> |
| ⋮ | ⋮ |
| 422159 | ······</ExternalReferenceList> | 421828 | ······</ExternalReferenceList> |
| 422160 | ······<DisorderDisorderAssociationList·count="0"> | 421829 | ······<DisorderDisorderAssociationList·count="0"> |
| 422161 | ······</DisorderDisorderAssociationList> | 421830 | ······</DisorderDisorderAssociationList> |
| 422162 | ······<SummaryInformationList·count="1"> | 421831 | ······<SummaryInformationList·count="0"> |
| 422163 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 422164 | ··········<TextSectionList·count="0"> | |
| 422165 | ··········</TextSectionList> | |
| 422166 | ··········<TextAuto> | |
| 422167 | ············<Info·lang="en">This·disease·is·not·rare·in·Europe.·It·does·not·belong·to·the·Orphanet·nomenclature·of·rare·diseases.</Info> | |
| 422168 | ··········</TextAuto> | |
| 422169 | ········</SummaryInformation> | |
| 422170 | ······</SummaryInformationList> | 421832 | ······</SummaryInformationList> |
| 422171 | ····</Disorder> | 421833 | ····</Disorder> |
| 422172 | ····<Disorder·id="24028"> | 421834 | ····<Disorder·id="24028"> |
| ⋮ | ⋮ |
| 424229 | ····<Disorder·id="23616"> | 423891 | ····<Disorder·id="23616"> |
| 424230 | ······<OrphaCode>449291</OrphaCode> | 423892 | ······<OrphaCode>449291</OrphaCode> |
| 424231 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449291</ExpertLink> | 423893 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449291</ExpertLink> |
| 424232 | ······<Name·lang="en">Symptomatic·form·of·fragile·X·syndrome·in·female·carrier</Name> | 423894 | ······<Name·lang="en">Symptomatic·form·of·fragile·X·syndrome·in·female·carriers</Name> |
| 424233 | ······<DisorderFlagList·count="1"> | 423895 | ······<DisorderFlagList·count="1"> |
| 424234 | ········<DisorderFlag·id="475"> | 423896 | ········<DisorderFlag·id="475"> |
| 424235 | ··········<Value>1</Value> | 423897 | ··········<Value>1</Value> |
| ⋮ | ⋮ |
| 430383 | ······</ExternalReferenceList> | 430045 | ······</ExternalReferenceList> |
| 430384 | ······<DisorderDisorderAssociationList·count="0"> | 430046 | ······<DisorderDisorderAssociationList·count="0"> |
| 430385 | ······</DisorderDisorderAssociationList> | 430047 | ······</DisorderDisorderAssociationList> |
| 430386 | ······<SummaryInformationList·count="1"> | 430048 | ······<SummaryInformationList·count="0"> |
| 430387 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 430388 | ··········<TextSectionList·count="0"> | |
| 430389 | ··········</TextSectionList> | |
| 430390 | ··········<TextAuto> | |
| 430391 | ············<Info·lang="en">This·disease·is·not·rare·in·Europe.·It·does·not·belong·to·the·Orphanet·nomenclature·of·rare·diseases.</Info> | |
| 430392 | ··········</TextAuto> | |
| 430393 | ········</SummaryInformation> | |
| 430394 | ······</SummaryInformationList> | 430049 | ······</SummaryInformationList> |
| 430395 | ····</Disorder> | 430050 | ····</Disorder> |
| 430396 | ····<Disorder·id="24154"> | 430051 | ····<Disorder·id="24154"> |
| ⋮ | ⋮ |
| 430461 | ······</ExternalReferenceList> | 430116 | ······</ExternalReferenceList> |
| 430462 | ······<DisorderDisorderAssociationList·count="0"> | 430117 | ······<DisorderDisorderAssociationList·count="0"> |
| 430463 | ······</DisorderDisorderAssociationList> | 430118 | ······</DisorderDisorderAssociationList> |
| 430464 | ······<SummaryInformationList·count="1"> | 430119 | ······<SummaryInformationList·count="0"> |
| 430465 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 430466 | ··········<TextSectionList·count="0"> | |
| 430467 | ··········</TextSectionList> | |
| 430468 | ··········<TextAuto> | |
| 430469 | ············<Info·lang="en">This·disease·is·not·rare·in·Europe.·It·does·not·belong·to·the·Orphanet·nomenclature·of·rare·diseases.</Info> | |
| 430470 | ··········</TextAuto> | |
| 430471 | ········</SummaryInformation> | |
| 430472 | ······</SummaryInformationList> | 430120 | ······</SummaryInformationList> |
| 430473 | ····</Disorder> | 430121 | ····</Disorder> |
| 430474 | ····<Disorder·id="24151"> | 430122 | ····<Disorder·id="24151"> |
| ⋮ | ⋮ |
| 431720 | ··············<TextSectionType·id="16907"> | 431368 | ··············<TextSectionType·id="16907"> |
| 431721 | ················<Name·lang="en">Definition</Name> | 431369 | ················<Name·lang="en">Definition</Name> |
| 431722 | ··············</TextSectionType> | 431370 | ··············</TextSectionType> |
| 431723 | ··············<Contents>A·rare·constitutional·hemolytic·anemia·characterized·in·symptomatic·forms·by·mild·to·severe·chronic·hemolysis,·which·is·further·exacerbated·by·oxidative·stress·and·may·lead·to·chronic·non-sperocytic·hemolytic·anemia·of·variable·severity.·Variation·in·glucose-6-phosphate·dehydrogenase·levels·accounts·for·differences·in·sensitivity·to·oxidants,·with·chronic·hemolysis·occurring·in·association·with·very·low·enzyme·levels,·while·the·majority·of·affected·individuals·remain·asymptomatic.·The·most·common·clinical·manifestations·are·neonatal·jaundice·and·signs·and·symptoms·of·acute·hemolysis·(such·as·fatigue,·back·pain,·anemia,·and·jaundice).</Contents> | 431371 | ··············<Contents>A·rare·constitutional·hemolytic·anemia·characterized·in·symptomatic·forms·by·mild·to·severe·chronic·hemolysis,·which·is·further·exacerbated·by·oxidative·stress·and·may·lead·to·chronic·non-shperocytic·hemolytic·anemia·of·variable·severity.·Variation·in·glucose-6-phosphate·dehydrogenase·levels·accounts·for·differences·in·sensitivity·to·oxidants,·with·chronic·hemolysis·occurring·in·association·with·very·low·enzyme·levels,·while·the·majority·of·affected·individuals·remain·asymptomatic.·The·most·common·clinical·manifestations·are·neonatal·jaundice·and·signs·and·symptoms·of·acute·hemolysis·(such·as·fatigue,·back·pain,·anemia,·and·jaundice).</Contents> |
| 431724 | ············</TextSection> | 431372 | ············</TextSection> |
| 431725 | ··········</TextSectionList> | 431373 | ··········</TextSectionList> |
| 431726 | ········</SummaryInformation> | 431374 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 431969 | ··············<TextSectionType·id="16907"> | 431617 | ··············<TextSectionType·id="16907"> |
| 431970 | ················<Name·lang="en">Definition</Name> | 431618 | ················<Name·lang="en">Definition</Name> |
| 431971 | ··············</TextSectionType> | 431619 | ··············</TextSectionType> |
| 431972 | ··············<Contents>A·rare·intestinal·disease·characterized·by·chronic·or·relapsing·subileus·or·ileus·resulting·from·multiple·unexplained·fibrous·structures·and·multiple·shallow·(i.·e.·limited·to·the·mucosa·or·submucosa)·ulcerations·of·the·small·intestine·(mainly·the·ileum),·in·the·absence·of·signs·of·a·systemic·inflammatory·reaction.·Patients·may·present·with·chronic·iron-deficiency·anemia·due·to·chronic·intestinal·blood·loss,·chronic·recurrent·abdominal·pain,·fatigue,·edema,·or·growth·retardation.·Extraintestinal·manifestations·such·as·sicca·syndrome,·polyarthralgia,·or·Raynaud's·phenomenon·may·also·be·observed.</Contents> | 431620 | ··············<Contents>A·rare·intestinal·disease·characterized·by·chronic·or·relapsing·subileus·or·ileus·resulting·from·multiple·unexplained·fibrous·structures·and·multiple·shallow·(i.·e.·limited·to·the·mucosa·or·submucosa)·ulcerations·of·the·small·intestine·(mainly·the·ileum),·in·the·absence·of·signs·of·a·systemic·inflammatory·reaction.·Patients·may·present·with·chronic·iron-deficiency·anemia·due·to·chronic·intestinal·blood·loss,·chronic·recurrent·abdominal·pain,·fatigue,·edema,·or·growth·retardation.·Extraintestinal·manifestations·such·as·Sicca·syndrome,·polyarthralgia,·or·Raynaud's·phenomenon·may·also·be·observed.</Contents> |
| 431973 | ············</TextSection> | 431621 | ············</TextSection> |
| 431974 | ··········</TextSectionList> | 431622 | ··········</TextSectionList> |
| 431975 | ········</SummaryInformation> | 431623 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 434930 | ··············<TextSectionType·id="16907"> | 434578 | ··············<TextSectionType·id="16907"> |
| 434931 | ················<Name·lang="en">Definition</Name> | 434579 | ················<Name·lang="en">Definition</Name> |
| 434932 | ··············</TextSectionType> | 434580 | ··············</TextSectionType> |
| 434933 | ··············<Contents>Autosomal·recessive·spondylometaphyseal·dysplasia,·Mégarbané·type·is·a·rare,·primary·bone·dysplasia·characterized·by·intrauterine·growth·retardation,·pre-·and·postnatal·disproportionate·short·stature·with·short,·rhizomelic·limbs,·facial·dysmorphism,·a·short·neck·and·small·thorax.·Hypotonia,·cardiomegaly·and·global·developmetal·delay·have·also·been·associated.·Several·radiographic·findings·have·been·reported,·including·ribs·with·cupped·ends,·platyspondyly,·square·iliac·bones,·horizontal·and·trident·acetabula,·hypoplastic·ischia,·and·delayed·epiphyseal·ossification.</Contents> | 434581 | ··············<Contents>Autosomal·recessive·spondylometaphyseal·dysplasia,·Mégarbané·type·is·a·rare,·primary·bone·dysplasia·characterized·by·intrauterine·growth·retardation,·pre-·and·postnatal·disproportionate·short·stature·with·short,·rhizomelic·limbs,·facial·dysmorphism,·a·short·neck·and·small·thorax.·Hypotonia,·cardiomegaly·and·global·developmental·delay·have·also·been·associated.·Several·radiographic·findings·have·been·reported,·including·ribs·with·cupped·ends,·platyspondyly,·square·iliac·bones,·horizontal·and·trident·acetabula,·hypoplastic·ischia,·and·delayed·epiphyseal·ossification.</Contents> |
| 434934 | ············</TextSection> | 434582 | ············</TextSection> |
| 434935 | ··········</TextSectionList> | 434583 | ··········</TextSectionList> |
| 434936 | ········</SummaryInformation> | 434584 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 437743 | ······</ExternalReferenceList> | 437391 | ······</ExternalReferenceList> |
| 437744 | ······<DisorderDisorderAssociationList·count="0"> | 437392 | ······<DisorderDisorderAssociationList·count="0"> |
| 437745 | ······</DisorderDisorderAssociationList> | 437393 | ······</DisorderDisorderAssociationList> |
| 437746 | ······<SummaryInformationList·count="1"> | 437394 | ······<SummaryInformationList·count="0"> |
| 437747 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 437748 | ··········<TextSectionList·count="0"> | |
| 437749 | ··········</TextSectionList> | |
| 437750 | ··········<TextAuto> | |
| 437751 | ············<Info·lang="en">This·disease·is·not·rare·in·Europe.·It·does·not·belong·to·the·Orphanet·nomenclature·of·rare·diseases.</Info> | |
| 437752 | ··········</TextAuto> | |
| 437753 | ········</SummaryInformation> | |
| 437754 | ······</SummaryInformationList> | 437395 | ······</SummaryInformationList> |
| 437755 | ····</Disorder> | 437396 | ····</Disorder> |
| 437756 | ····<Disorder·id="23018"> | 437397 | ····<Disorder·id="23018"> |
| ⋮ | ⋮ |
| 442170 | ······</DisorderFlagList> | 441811 | ······</DisorderFlagList> |
| 442171 | ······<SynonymList·count="0"> | 441812 | ······<SynonymList·count="0"> |
| 442172 | ······</SynonymList> | 441813 | ······</SynonymList> |
| 442173 | ······<DisorderType·id="21394"> | 441814 | ······<DisorderType·id="21443"> |
| 442174 | ········<Name·lang="en">Disease</Name> | 441815 | ········<Name·lang="en">Etiological·subtype</Name> |
| 442175 | ······</DisorderType> | 441816 | ······</DisorderType> |
| 442176 | ······<DisorderGroup·id="36547"> | 441817 | ······<DisorderGroup·id="36554"> |
| 442177 | ········<Name·lang="en">Disorder</Name> | 441818 | ········<Name·lang="en">Subtype·of·disorder</Name> |
| 442178 | ······</DisorderGroup> | 441819 | ······</DisorderGroup> |
| 442179 | ······<ExternalReferenceList·count="3"> | 441820 | ······<ExternalReferenceList·count="3"> |
| 442180 | ········<ExternalReference·id="86186"> | 441821 | ········<ExternalReference·id="86186"> |
| ⋮ | ⋮ |
| 442662 | ······</ExternalReferenceList> | 442303 | ······</ExternalReferenceList> |
| 442663 | ······<DisorderDisorderAssociationList·count="0"> | 442304 | ······<DisorderDisorderAssociationList·count="0"> |
| 442664 | ······</DisorderDisorderAssociationList> | 442305 | ······</DisorderDisorderAssociationList> |
| 442665 | ······<SummaryInformationList·count="1"> | 442306 | ······<SummaryInformationList·count="0"> |
| 442666 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 442667 | ··········<TextSectionList·count="0"> | |
| 442668 | ··········</TextSectionList> | |
| 442669 | ··········<TextAuto> | |
| 442670 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 442671 | ··········</TextAuto> | |
| 442672 | ········</SummaryInformation> | |
| 442673 | ······</SummaryInformationList> | 442307 | ······</SummaryInformationList> |
| 442674 | ····</Disorder> | 442308 | ····</Disorder> |
| 442675 | ····<Disorder·id="22715"> | 442309 | ····<Disorder·id="22715"> |
| ⋮ | ⋮ |
| 443867 | ··············<TextSectionType·id="16907"> | 443501 | ··············<TextSectionType·id="16907"> |
| 443868 | ················<Name·lang="en">Definition</Name> | 443502 | ················<Name·lang="en">Definition</Name> |
| 443869 | ··············</TextSectionType> | 443503 | ··············</TextSectionType> |
| 443870 | ··············<Contents>Intellectual·disability-coarse·face-macrocephaly-cerebellar·hypotrophy·syndrome·is·a·rare,·genetic,·central·nervous·system·malformation·syndrome·characterized·by·early-onset,·progressive,·severe·cerebellar·ataxia·associated·with·progressive,·moderate·to·severe·intellecutal·disability,·global·developmental·delay,·progressively·coarsening·facial·features,·relative·macrocephaly·and·absence·of·seizures.·Sensorineural·hearing·loss·may·be·associated.·Neuroimaging·reveals·cerebellar·atrophy/hypoplasia.</Contents> | 443504 | ··············<Contents>Intellectual·disability-coarse·face-macrocephaly-cerebellar·hypotrophy·syndrome·is·a·rare,·genetic,·central·nervous·system·malformation·syndrome·characterized·by·early-onset,·progressive,·severe·cerebellar·ataxia·associated·with·progressive,·moderate·to·severe·intellectual·disability,·global·developmental·delay,·progressively·coarsening·facial·features,·relative·macrocephaly·and·absence·of·seizures.·Sensorineural·hearing·loss·may·be·associated.·Neuroimaging·reveals·cerebellar·atrophy/hypoplasia.</Contents> |
| 443871 | ············</TextSection> | 443505 | ············</TextSection> |
| 443872 | ··········</TextSectionList> | 443506 | ··········</TextSectionList> |
| 443873 | ········</SummaryInformation> | 443507 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 447210 | ······</ExternalReferenceList> | 446844 | ······</ExternalReferenceList> |
| 447211 | ······<DisorderDisorderAssociationList·count="0"> | 446845 | ······<DisorderDisorderAssociationList·count="0"> |
| 447212 | ······</DisorderDisorderAssociationList> | 446846 | ······</DisorderDisorderAssociationList> |
| 447213 | ······<SummaryInformationList·count="1"> | 446847 | ······<SummaryInformationList·count="0"> |
| 447214 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 447215 | ··········<TextSectionList·count="0"> | |
| 447216 | ··········</TextSectionList> | |
| 447217 | ··········<TextAuto> | |
| 447218 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 447219 | ··········</TextAuto> | |
| 447220 | ········</SummaryInformation> | |
| 447221 | ······</SummaryInformationList> | 446848 | ······</SummaryInformationList> |
| 447222 | ····</Disorder> | 446849 | ····</Disorder> |
| 447223 | ····<Disorder·id="22741"> | 446850 | ····<Disorder·id="22741"> |
| ⋮ | ⋮ |
| 447294 | ······</ExternalReferenceList> | 446921 | ······</ExternalReferenceList> |
| 447295 | ······<DisorderDisorderAssociationList·count="0"> | 446922 | ······<DisorderDisorderAssociationList·count="0"> |
| 447296 | ······</DisorderDisorderAssociationList> | 446923 | ······</DisorderDisorderAssociationList> |
| 447297 | ······<SummaryInformationList·count="1"> | 446924 | ······<SummaryInformationList·count="0"> |
| 447298 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 447299 | ··········<TextSectionList·count="0"> | |
| 447300 | ··········</TextSectionList> | |
| 447301 | ··········<TextAuto> | |
| 447302 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 447303 | ··········</TextAuto> | |
| 447304 | ········</SummaryInformation> | |
| 447305 | ······</SummaryInformationList> | 446925 | ······</SummaryInformationList> |
| 447306 | ····</Disorder> | 446926 | ····</Disorder> |
| 447307 | ····<Disorder·id="22743"> | 446927 | ····<Disorder·id="22743"> |
| ⋮ | ⋮ |
| 450500 | ··············<TextSectionType·id="16907"> | 450120 | ··············<TextSectionType·id="16907"> |
| 450501 | ················<Name·lang="en">Definition</Name> | 450121 | ················<Name·lang="en">Definition</Name> |
| 450502 | ··············</TextSectionType> | 450122 | ··············</TextSectionType> |
| 450503 | ··············<Contents>A·rare,·genetic,·lypmhoproliferative·syndrome·characterized·by·early·onset·recurrent·infections,·lymphadenopathy·with·hepatosplenomegaly·and·variabe·autoimmune·disorders,·including·hemolytic·anemia,·thrombocytopenia,·neutropenia,·enteropathy,·type·I·diabetes,·scleroderma,·arthritis,·atopic·dermatitis,·and·inflammatory·lung·disease.·Patients·commonly·have·failure·to·thrive.·Variable·immunologic·findings·include·decreased·regulatory·T-cells,·hypogammaglobulinemia,·and·reduction·in·memory·B·cells.</Contents> | 450123 | ··············<Contents>A·rare,·genetic,·lymphoproliferative·syndrome·characterized·by·early·onset·recurrent·infections,·lymphadenopathy·with·hepatosplenomegaly·and·variable·autoimmune·disorders,·including·hemolytic·anemia,·thrombocytopenia,·neutropenia,·enteropathy,·type·I·diabetes,·scleroderma,·arthritis,·atopic·dermatitis,·and·inflammatory·lung·disease.·Patients·commonly·have·failure·to·thrive.·Variable·immunologic·findings·include·decreased·regulatory·T-cells,·hypogammaglobulinemia,·and·reduction·in·memory·B·cells.</Contents> |
| 450504 | ············</TextSection> | 450124 | ············</TextSection> |
| 450505 | ··········</TextSectionList> | 450125 | ··········</TextSectionList> |
| 450506 | ········</SummaryInformation> | 450126 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 453075 | ··········</DisorderDisorderAssociationType> | 452695 | ··········</DisorderDisorderAssociationType> |
| 453076 | ········</DisorderDisorderAssociation> | 452696 | ········</DisorderDisorderAssociation> |
| 453077 | ······</DisorderDisorderAssociationList> | 452697 | ······</DisorderDisorderAssociationList> |
| 453078 | ······<SummaryInformationList·count="1"> | 452698 | ······<SummaryInformationList·count="0"> |
| 453079 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 453080 | ··········<TextSectionList·count="0"> | |
| 453081 | ··········</TextSectionList> | |
| 453082 | ··········<TextAuto> | |
| 453083 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 453084 | ··········</TextAuto> | |
| 453085 | ········</SummaryInformation> | |
| 453086 | ······</SummaryInformationList> | 452699 | ······</SummaryInformationList> |
| 453087 | ····</Disorder> | 452700 | ····</Disorder> |
| 453088 | ····<Disorder·id="23422"> | 452701 | ····<Disorder·id="23422"> |
| ⋮ | ⋮ |
| 455631 | ··············<TextSectionType·id="16907"> | 455244 | ··············<TextSectionType·id="16907"> |
| 455632 | ················<Name·lang="en">Definition</Name> | 455245 | ················<Name·lang="en">Definition</Name> |
| 455633 | ··············</TextSectionType> | 455246 | ··············</TextSectionType> |
| 455634 | ··············<Contents>A·rare·form·of·salmonellosis·caused·by·<i>Salmonella·enterica</i>·serovar·Paratyphi·A,·characterized·by·typical·symptoms·of·enteric·fever·including·high·fever,·headache,·abdominal·pain·and·intestinal·symptoms,·dry·cough,·chills,·and·rashes,·followed·by·a·long·period·of·recovery.·The·infection·can·be·complicated·by·intestinal·hemorrhage·and·perforation,·as·well·as·cardiac·involvement,·and·may·even·be·fatal.·Transmission·of·the·pathogen·is·via·the·fecal-oral·route,·with·humans·as·the·sole·reservoir·of·infection.</Contents> | 455247 | ··············<Contents>A·rare·form·of·salmonellosis·caused·by·Salmonella·enterica·serovar·Paratyphi·A,·B·and·C,·characterized·by·typical·symptoms·of·enteric·fever·including·high·fever,·headache,·abdominal·pain·and·intestinal·symptoms,·dry·cough,·chills,·and·rashes,·followed·by·a·long·period·of·recovery.·The·infection·can·be·complicated·by·intestinal·hemorrhage·and·perforation,·as·well·as·cardiac·involvement,·and·may·even·be·fatal.·Transmission·of·the·pathogen·is·via·the·fecal-oral·route,·with·humans·as·the·sole·reservoir·of·infection.</Contents> |
| 455635 | ············</TextSection> | 455248 | ············</TextSection> |
| 455636 | ··········</TextSectionList> | 455249 | ··········</TextSectionList> |
| 455637 | ········</SummaryInformation> | 455250 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 462360 | ······</ExternalReferenceList> | 461973 | ······</ExternalReferenceList> |
| 462361 | ······<DisorderDisorderAssociationList·count="0"> | 461974 | ······<DisorderDisorderAssociationList·count="0"> |
| 462362 | ······</DisorderDisorderAssociationList> | 461975 | ······</DisorderDisorderAssociationList> |
| 462363 | ······<SummaryInformationList·count="1"> | 461976 | ······<SummaryInformationList·count="0"> |
| 462364 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 462365 | ··········<TextSectionList·count="0"> | |
| 462366 | ··········</TextSectionList> | |
| 462367 | ··········<TextAuto> | |
| 462368 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 462369 | ··········</TextAuto> | |
| 462370 | ········</SummaryInformation> | |
| 462371 | ······</SummaryInformationList> | 461977 | ······</SummaryInformationList> |
| 462372 | ····</Disorder> | 461978 | ····</Disorder> |
| 462373 | ····<Disorder·id="23164"> | 461979 | ····<Disorder·id="23164"> |
| ⋮ | ⋮ |
| 463735 | ······</ExternalReferenceList> | 463341 | ······</ExternalReferenceList> |
| 463736 | ······<DisorderDisorderAssociationList·count="0"> | 463342 | ······<DisorderDisorderAssociationList·count="0"> |
| 463737 | ······</DisorderDisorderAssociationList> | 463343 | ······</DisorderDisorderAssociationList> |
| 463738 | ······<SummaryInformationList·count="1"> | 463344 | ······<SummaryInformationList·count="0"> |
| 463739 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 463740 | ··········<TextSectionList·count="0"> | |
| 463741 | ··········</TextSectionList> | |
| 463742 | ··········<TextAuto> | |
| 463743 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 463744 | ··········</TextAuto> | |
| 463745 | ········</SummaryInformation> | |
| 463746 | ······</SummaryInformationList> | 463345 | ······</SummaryInformationList> |
| 463747 | ····</Disorder> | 463346 | ····</Disorder> |
| 463748 | ····<Disorder·id="23191"> | 463347 | ····<Disorder·id="23191"> |
| ⋮ | ⋮ |
| 464105 | ··········</DisorderDisorderAssociationType> | 463704 | ··········</DisorderDisorderAssociationType> |
| 464106 | ········</DisorderDisorderAssociation> | 463705 | ········</DisorderDisorderAssociation> |
| 464107 | ······</DisorderDisorderAssociationList> | 463706 | ······</DisorderDisorderAssociationList> |
| 464108 | ······<SummaryInformationList·count="1"> | 463707 | ······<SummaryInformationList·count="0"> |
| 464109 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 464110 | ··········<TextSectionList·count="0"> | |
| 464111 | ··········</TextSectionList> | |
| 464112 | ··········<TextAuto> | |
| 464113 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 464114 | ··········</TextAuto> | |
| 464115 | ········</SummaryInformation> | |
| 464116 | ······</SummaryInformationList> | 463708 | ······</SummaryInformationList> |
| 464117 | ····</Disorder> | 463709 | ····</Disorder> |
| 464118 | ····<Disorder·id="23178"> | 463710 | ····<Disorder·id="23178"> |
| ⋮ | ⋮ |
| 464703 | ······</ExternalReferenceList> | 464295 | ······</ExternalReferenceList> |
| 464704 | ······<DisorderDisorderAssociationList·count="0"> | 464296 | ······<DisorderDisorderAssociationList·count="0"> |
| 464705 | ······</DisorderDisorderAssociationList> | 464297 | ······</DisorderDisorderAssociationList> |
| 464706 | ······<SummaryInformationList·count="1"> | 464298 | ······<SummaryInformationList·count="0"> |
| 464707 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 464708 | ··········<TextSectionList·count="0"> | |
| 464709 | ··········</TextSectionList> | |
| 464710 | ··········<TextAuto> | |
| 464711 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 464712 | ··········</TextAuto> | |
| 464713 | ········</SummaryInformation> | |
| 464714 | ······</SummaryInformationList> | 464299 | ······</SummaryInformationList> |
| 464715 | ····</Disorder> | 464300 | ····</Disorder> |
| 464716 | ····<Disorder·id="23172"> | 464301 | ····<Disorder·id="23172"> |
| ⋮ | ⋮ |
| 464828 | ······</ExternalReferenceList> | 464413 | ······</ExternalReferenceList> |
| 464829 | ······<DisorderDisorderAssociationList·count="0"> | 464414 | ······<DisorderDisorderAssociationList·count="0"> |
| 464830 | ······</DisorderDisorderAssociationList> | 464415 | ······</DisorderDisorderAssociationList> |
| 464831 | ······<SummaryInformationList·count="1"> | 464416 | ······<SummaryInformationList·count="0"> |
| 464832 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 464833 | ··········<TextSectionList·count="0"> | |
| 464834 | ··········</TextSectionList> | |
| 464835 | ··········<TextAuto> | |
| 464836 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 464837 | ··········</TextAuto> | |
| 464838 | ········</SummaryInformation> | |
| 464839 | ······</SummaryInformationList> | 464417 | ······</SummaryInformationList> |
| 464840 | ····</Disorder> | 464418 | ····</Disorder> |
| 464841 | ····<Disorder·id="23231"> | 464419 | ····<Disorder·id="23231"> |
| ⋮ | ⋮ |
| 464921 | ······</ExternalReferenceList> | 464499 | ······</ExternalReferenceList> |
| 464922 | ······<DisorderDisorderAssociationList·count="0"> | 464500 | ······<DisorderDisorderAssociationList·count="0"> |
| 464923 | ······</DisorderDisorderAssociationList> | 464501 | ······</DisorderDisorderAssociationList> |
| 464924 | ······<SummaryInformationList·count="1"> | 464502 | ······<SummaryInformationList·count="0"> |
| 464925 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 464926 | ··········<TextSectionList·count="0"> | |
| 464927 | ··········</TextSectionList> | |
| 464928 | ··········<TextAuto> | |
| 464929 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 464930 | ··········</TextAuto> | |
| 464931 | ········</SummaryInformation> | |
| 464932 | ······</SummaryInformationList> | 464503 | ······</SummaryInformationList> |
| 464933 | ····</Disorder> | 464504 | ····</Disorder> |
| 464934 | ····<Disorder·id="23208"> | 464505 | ····<Disorder·id="23208"> |
| ⋮ | ⋮ |
| 468514 | ··············<TextSectionType·id="16907"> | 468085 | ··············<TextSectionType·id="16907"> |
| 468515 | ················<Name·lang="en">Definition</Name> | 468086 | ················<Name·lang="en">Definition</Name> |
| 468516 | ··············</TextSectionType> | 468087 | ··············</TextSectionType> |
| 468517 | ··············<Contents>Familial·hyperaldosteronism·type·II·(FH-II)·is·a·heritable·form·of·primary·aldosteronism·(PA)·characterized·by·hypertension·of·varying·severity,·and·non·glucocticoid·remediable·hyperaldosteronism.</Contents> | 468088 | ··············<Contents>A·heritable·form·of·primary·aldosteronism·(PA)·characterized·by·hypertension·of·varying·severity,·non-glucocorticoid·remediable·hyperaldosteronism,·variable·hypokalemia,·low·plasma·renin·activity·(PRA)·and·increased·aldosterone-to-renin·ratio.</Contents> |
| 468518 | ············</TextSection> | 468089 | ············</TextSection> |
| 468519 | ··········</TextSectionList> | 468090 | ··········</TextSectionList> |
| 468520 | ········</SummaryInformation> | 468091 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 468619 | ··············<TextSectionType·id="16907"> | 468190 | ··············<TextSectionType·id="16907"> |
| 468620 | ················<Name·lang="en">Definition</Name> | 468191 | ················<Name·lang="en">Definition</Name> |
| 468621 | ··············</TextSectionType> | 468192 | ··············</TextSectionType> |
| 468622 | ··············<Contents>Pseudohypoaldosteronism·type·1·(PHA1)·is·a·primary·form·of·mineralocorticoid·resistance·presenting·in·the·newborn·with·renal·salt·wasting,·failure·to·thrive·and·dehydration.</Contents> | 468193 | ··············<Contents>A·rare,·primary·form·of·mineralocorticoid·resistance·characterized·by·mild·to·profound·salt·wasting·either·restricted·to·the·kidney·(renal·pseudohypoaldosteronism·type·1),·or·generalized·affecting·many·organs·(generalized·pseudohypoaldosteronism·type·1).·Clinical·presentation·is·in·the·neonatal·period·with·failure·to·thrive,·vomiting·and·dehydration·with·biochemical·findings·of·hyperkalaemia,·metabolic·acidosis·and,·elevated·plasma·aldosterone·and·renin·concentration.</Contents> |
| 468623 | ············</TextSection> | 468194 | ············</TextSection> |
| 468624 | ··········</TextSectionList> | 468195 | ··········</TextSectionList> |
| 468625 | ········</SummaryInformation> | 468196 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 475510 | ······<DisorderGroup·id="36547"> | 475081 | ······<DisorderGroup·id="36547"> |
| 475511 | ········<Name·lang="en">Disorder</Name> | 475082 | ········<Name·lang="en">Disorder</Name> |
| 475512 | ······</DisorderGroup> | 475083 | ······</DisorderGroup> |
| 475513 | ······<ExternalReferenceList·count="3"> | 475084 | ······<ExternalReferenceList·count="5"> |
| 475514 | ········<ExternalReference·id="154906"> | 475085 | ········<ExternalReference·id="154906"> |
| 475515 | ··········<Source>OMIM</Source> | 475086 | ··········<Source>OMIM</Source> |
| 475516 | ··········<Reference>275355</Reference> | 475087 | ··········<Reference>275355</Reference> |
| ⋮ | ⋮ |
| 475522 | ············<Name·lang="en">Validated</Name> | 475093 | ············<Name·lang="en">Validated</Name> |
| 475523 | ··········</DisorderMappingValidationStatus> | 475094 | ··········</DisorderMappingValidationStatus> |
| 475524 | ········</ExternalReference> | 475095 | ········</ExternalReference> |
| 475525 | ········<ExternalReference·id="194014"> | 475096 | ········<ExternalReference·id="200331"> |
| 475526 | ··········<Source>ICD-10</Source> | 475097 | ··········<Source>ICD-10</Source> |
| 475527 | ··········<Reference>C12</Reference> | 475098 | ··········<Reference>C12</Reference> |
| 475528 | ··········<DisorderMappingRelation·id="21541"> | 475099 | ··········<DisorderMappingRelation·id="21541"> |
| ⋮ | ⋮ |
| 475531 | ··········<DisorderMappingICDRelation·id="21604"> | 475102 | ··········<DisorderMappingICDRelation·id="21604"> |
| 475532 | ············<Name·lang="en">Attributed·(The·ICD10·code·is·attributed·by·Orphanet)</Name> | 475103 | ············<Name·lang="en">Attributed·(The·ICD10·code·is·attributed·by·Orphanet)</Name> |
| 475533 | ··········</DisorderMappingICDRelation> | 475104 | ··········</DisorderMappingICDRelation> |
| 475534 | ··········<DisorderMappingValidationStatus·id="21618"> | 475105 | ··········<DisorderMappingValidationStatus·id="21611"> |
| 475535 | ············<Name·lang="en">Not·yet·validated</Name> | 475106 | ············<Name·lang="en">Validated</Name> |
| 475536 | ··········</DisorderMappingValidationStatus> | 475107 | ··········</DisorderMappingValidationStatus> |
| 475537 | ········</ExternalReference> | 475108 | ········</ExternalReference> |
| 475538 | ········<ExternalReference·id="194015"> | 475109 | ········<ExternalReference·id="200332"> |
| 475539 | ··········<Source>ICD-10</Source> | 475110 | ··········<Source>ICD-10</Source> |
| 475540 | ··········<Reference>C13.8</Reference> | 475111 | ··········<Reference>C13.8</Reference> |
| 475541 | ··········<DisorderMappingRelation·id="21541"> | 475112 | ··········<DisorderMappingRelation·id="21541"> |
| ⋮ | ⋮ |
| 475544 | ··········<DisorderMappingICDRelation·id="21604"> | 475115 | ··········<DisorderMappingICDRelation·id="21604"> |
| 475545 | ············<Name·lang="en">Attributed·(The·ICD10·code·is·attributed·by·Orphanet)</Name> | 475116 | ············<Name·lang="en">Attributed·(The·ICD10·code·is·attributed·by·Orphanet)</Name> |
| 475546 | ··········</DisorderMappingICDRelation> | 475117 | ··········</DisorderMappingICDRelation> |
| 475547 | ··········<DisorderMappingValidationStatus·id="21618"> | 475118 | ··········<DisorderMappingValidationStatus·id="21611"> |
| 475548 | ············<Name·lang="en">Not·yet·validated</Name> | 475119 | ············<Name·lang="en">Validated</Name> |
| | 475120 | ··········</DisorderMappingValidationStatus> |
| | 475121 | ········</ExternalReference> |
| | 475122 | ········<ExternalReference·id="200333"> |
| | 475123 | ··········<Source>ICD-10</Source> |
| | 475124 | ··········<Reference>C13.0</Reference> |
| | 475125 | ··········<DisorderMappingRelation·id="21541"> |
| | 475126 | ············<Name·lang="en">BTNT·(ORPHA·code's·Broader·Term·maps·to·a·Narrower·Term)</Name> |
| | 475127 | ··········</DisorderMappingRelation> |
| | 475128 | ··········<DisorderMappingICDRelation·id="21604"> |
| | 475129 | ············<Name·lang="en">Attributed·(The·ICD10·code·is·attributed·by·Orphanet)</Name> |
| | 475130 | ··········</DisorderMappingICDRelation> |
| | 475131 | ··········<DisorderMappingValidationStatus·id="21611"> |
| | 475132 | ············<Name·lang="en">Validated</Name> |
| | 475133 | ··········</DisorderMappingValidationStatus> |
| | 475134 | ········</ExternalReference> |
| | 475135 | ········<ExternalReference·id="200330"> |
| | 475136 | ··········<Source>ICD-10</Source> |
| | 475137 | ··········<Reference>C13.2</Reference> |
| | 475138 | ··········<DisorderMappingRelation·id="21541"> |
| | 475139 | ············<Name·lang="en">BTNT·(ORPHA·code's·Broader·Term·maps·to·a·Narrower·Term)</Name> |
| | 475140 | ··········</DisorderMappingRelation> |
| | 475141 | ··········<DisorderMappingICDRelation·id="21604"> |
| | 475142 | ············<Name·lang="en">Attributed·(The·ICD10·code·is·attributed·by·Orphanet)</Name> |
| | 475143 | ··········</DisorderMappingICDRelation> |
| | 475144 | ··········<DisorderMappingValidationStatus·id="21611"> |
| | 475145 | ············<Name·lang="en">Validated</Name> |
| 475549 | ··········</DisorderMappingValidationStatus> | 475146 | ··········</DisorderMappingValidationStatus> |
| 475550 | ········</ExternalReference> | 475147 | ········</ExternalReference> |
| 475551 | ······</ExternalReferenceList> | 475148 | ······</ExternalReferenceList> |
| ⋮ | ⋮ |
| 485195 | ··············<TextSectionType·id="16907"> | 484792 | ··············<TextSectionType·id="16907"> |
| 485196 | ················<Name·lang="en">Definition</Name> | 484793 | ················<Name·lang="en">Definition</Name> |
| 485197 | ··············</TextSectionType> | 484794 | ··············</TextSectionType> |
| 485198 | ··············<Contents>Severe·hypoplasminogenemia·(HPG)·or·type·1·plasminogen·(plg)·deficiency·is·a·systemic·disease·characterised·by·markedly·impaired·extracellular·fibrinolysis·leading·to·the·formation·of·ligneous·(fibrin-rich)·pseudomembranes·on·mucosae·during·wound·healing.</Contents> | 484795 | ··············<Contents>A·rare·multi-system·disease·characterized·by·markedly·impaired·extracellular·fibrinolysis·leading·to·the·formation·of·ligneous·(fibrin-rich)·pseudomembranes·on·mucosae.</Contents> |
| 485199 | ············</TextSection> | 484796 | ············</TextSection> |
| 485200 | ··········</TextSectionList> | 484797 | ··········</TextSectionList> |
| 485201 | ········</SummaryInformation> | 484798 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 486843 | ··············<TextSectionType·id="16907"> | 486440 | ··············<TextSectionType·id="16907"> |
| 486844 | ················<Name·lang="en">Definition</Name> | 486441 | ················<Name·lang="en">Definition</Name> |
| 486845 | ··············</TextSectionType> | 486442 | ··············</TextSectionType> |
| 486846 | ··············<Contents>A·rare,·congenital,·non-syndromic,·developmental·defect·during·embryogenesis·characterized·by·positioning·of·the·heart·in·the·right·hemithorax,·with·the·base·and·apex·of·the·heart·pointing·caudally·and·to·the·right,·due·to·abnormalities·of·embryologic·origin·that·are·intrinsic·to·the·heart·itself.·Situs·inversus·or·situs·solitus·may·be·associated,·with·extracardiac·visceral·transposition·anomalies·usually·present·in·the·former·case·and·additional·cardiac·defects·(e.g.·septal·defects,·transposition·of·the·great·arteries,·double-outlet·right·ventricles,·anomalous·pulmonary·venous·return,·tetralogy·of·Fallot)·frequently·observed·in·both·cases.</Contents> | 486443 | ··············<Contents>A·rare,·congenital,·non-syndromic,·developmental·defect·during·embryogenesis·characterized·by·positioning·of·the·heart·in·the·right·hemithorax,·with·the·base·and·apex·of·the·heart·pointing·caudally·and·to·the·right,·due·to·abnormalities·of·embryologic·origin·that·are·intrinsic·to·the·heart·itself.·Situs·inversus·or·situs·solitus·may·be·associated,·with·extracardiac·visceral·transposition·anomalies·usually·present·in·the·former·case·and·additional·cardiac·defects·(e.g.·septal·defects,·transposition·of·the·great·arteries,·double-outlet·right·ventricle,·anomalous·pulmonary·venous·return,·tetralogy·of·Fallot)·frequently·observed·in·both·cases.</Contents> |
| 486847 | ············</TextSection> | 486444 | ············</TextSection> |
| 486848 | ··········</TextSectionList> | 486445 | ··········</TextSectionList> |
| 486849 | ········</SummaryInformation> | 486446 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 488616 | ··············<TextSectionType·id="16907"> | 488213 | ··············<TextSectionType·id="16907"> |
| 488617 | ················<Name·lang="en">Definition</Name> | 488214 | ················<Name·lang="en">Definition</Name> |
| 488618 | ··············</TextSectionType> | 488215 | ··············</TextSectionType> |
| 488619 | ··············<Contents>A·rare·genetic·disease·characterized·by·infantile·or·childhood·onset·of·abnormal·growth·of·hyalinized·fibrous·tissue,·giving·rise·to·multiple·cutaneous·nodules·and/or·pearly·papules·predominantly·affecting·the·scalp,·ears,·neck,·face,·hands,·and·feet.·Involvement·of·other·organs·results·in·gingiva·hyperplasia,·osteolytic·bone·lesions,·and·joint·contractures.·Some·patients·exhibit·visceral·involvement·with·intractable·diarrhea,·increased·susceptibility·to·infections,·and·severe·failure·to·thrive.</Contents> | 488216 | ··············<Contents>A·rare·genetic·disease·characterized·by·infantile·or·childhood·onset·of·abnormal·growth·of·hyalinized·fibrous·tissue,·giving·rise·to·multiple·cutaneous·nodules·and/or·pearly·papules·predominantly·affecting·the·scalp,·ears,·neck,·face,·hands,·and·feet.·Involvement·of·other·organs·results·in·gingival·hyperplasia,·osteolytic·bone·lesions,·and·joint·contractures.·Some·patients·exhibit·visceral·involvement·with·intractable·diarrhea,·increased·susceptibility·to·infections,·and·severe·failure·to·thrive.</Contents> |
| 488620 | ············</TextSection> | 488217 | ············</TextSection> |
| 488621 | ··········</TextSectionList> | 488218 | ··········</TextSectionList> |
| 488622 | ········</SummaryInformation> | 488219 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 491758 | ······</ExternalReferenceList> | 491355 | ······</ExternalReferenceList> |
| 491759 | ······<DisorderDisorderAssociationList·count="0"> | 491356 | ······<DisorderDisorderAssociationList·count="0"> |
| 491760 | ······</DisorderDisorderAssociationList> | 491357 | ······</DisorderDisorderAssociationList> |
| 491761 | ······<SummaryInformationList·count="1"> | 491358 | ······<SummaryInformationList·count="0"> |
| 491762 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 491763 | ··········<TextSectionList·count="0"> | |
| 491764 | ··········</TextSectionList> | |
| 491765 | ··········<TextAuto> | |
| 491766 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 491767 | ··········</TextAuto> | |
| 491768 | ········</SummaryInformation> | |
| 491769 | ······</SummaryInformationList> | 491359 | ······</SummaryInformationList> |
| 491770 | ····</Disorder> | 491360 | ····</Disorder> |
| 491771 | ····<Disorder·id="25312"> | 491361 | ····<Disorder·id="25312"> |
| ⋮ | ⋮ |
| 496054 | ······</ExternalReferenceList> | 495644 | ······</ExternalReferenceList> |
| 496055 | ······<DisorderDisorderAssociationList·count="0"> | 495645 | ······<DisorderDisorderAssociationList·count="0"> |
| 496056 | ······</DisorderDisorderAssociationList> | 495646 | ······</DisorderDisorderAssociationList> |
| 496057 | ······<SummaryInformationList·count="1"> | 495647 | ······<SummaryInformationList·count="0"> |
| 496058 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 496059 | ··········<TextSectionList·count="0"> | |
| 496060 | ··········</TextSectionList> | |
| 496061 | ··········<TextAuto> | |
| 496062 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 496063 | ··········</TextAuto> | |
| 496064 | ········</SummaryInformation> | |
| 496065 | ······</SummaryInformationList> | 495648 | ······</SummaryInformationList> |
| 496066 | ····</Disorder> | 495649 | ····</Disorder> |
| 496067 | ····<Disorder·id="25148"> | 495650 | ····<Disorder·id="25148"> |
| ⋮ | ⋮ |
| 496086 | ······</ExternalReferenceList> | 495669 | ······</ExternalReferenceList> |
| 496087 | ······<DisorderDisorderAssociationList·count="0"> | 495670 | ······<DisorderDisorderAssociationList·count="0"> |
| 496088 | ······</DisorderDisorderAssociationList> | 495671 | ······</DisorderDisorderAssociationList> |
| 496089 | ······<SummaryInformationList·count="1"> | 495672 | ······<SummaryInformationList·count="0"> |
| 496090 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 496091 | ··········<TextSectionList·count="0"> | |
| 496092 | ··········</TextSectionList> | |
| 496093 | ··········<TextAuto> | |
| 496094 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 496095 | ··········</TextAuto> | |
| 496096 | ········</SummaryInformation> | |
| 496097 | ······</SummaryInformationList> | 495673 | ······</SummaryInformationList> |
| 496098 | ····</Disorder> | 495674 | ····</Disorder> |
| 496099 | ····<Disorder·id="25150"> | 495675 | ····<Disorder·id="25150"> |
| ⋮ | ⋮ |
| 496179 | ······</ExternalReferenceList> | 495755 | ······</ExternalReferenceList> |
| 496180 | ······<DisorderDisorderAssociationList·count="0"> | 495756 | ······<DisorderDisorderAssociationList·count="0"> |
| 496181 | ······</DisorderDisorderAssociationList> | 495757 | ······</DisorderDisorderAssociationList> |
| 496182 | ······<SummaryInformationList·count="1"> | 495758 | ······<SummaryInformationList·count="0"> |
| 496183 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 496184 | ··········<TextSectionList·count="0"> | |
| 496185 | ··········</TextSectionList> | |
| 496186 | ··········<TextAuto> | |
| 496187 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 496188 | ··········</TextAuto> | |
| 496189 | ········</SummaryInformation> | |
| 496190 | ······</SummaryInformationList> | 495759 | ······</SummaryInformationList> |
| 496191 | ····</Disorder> | 495760 | ····</Disorder> |
| 496192 | ····<Disorder·id="25091"> | 495761 | ····<Disorder·id="25091"> |
| ⋮ | ⋮ |
| 496247 | ······</ExternalReferenceList> | 495816 | ······</ExternalReferenceList> |
| 496248 | ······<DisorderDisorderAssociationList·count="0"> | 495817 | ······<DisorderDisorderAssociationList·count="0"> |
| 496249 | ······</DisorderDisorderAssociationList> | 495818 | ······</DisorderDisorderAssociationList> |
| 496250 | ······<SummaryInformationList·count="1"> | 495819 | ······<SummaryInformationList·count="0"> |
| 496251 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 496252 | ··········<TextSectionList·count="0"> | |
| 496253 | ··········</TextSectionList> | |
| 496254 | ··········<TextAuto> | |
| 496255 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 496256 | ··········</TextAuto> | |
| 496257 | ········</SummaryInformation> | |
| 496258 | ······</SummaryInformationList> | 495820 | ······</SummaryInformationList> |
| 496259 | ····</Disorder> | 495821 | ····</Disorder> |
| 496260 | ····<Disorder·id="25089"> | 495822 | ····<Disorder·id="25089"> |
| ⋮ | ⋮ |
| 496342 | ······</ExternalReferenceList> | 495904 | ······</ExternalReferenceList> |
| 496343 | ······<DisorderDisorderAssociationList·count="0"> | 495905 | ······<DisorderDisorderAssociationList·count="0"> |
| 496344 | ······</DisorderDisorderAssociationList> | 495906 | ······</DisorderDisorderAssociationList> |
| 496345 | ······<SummaryInformationList·count="1"> | 495907 | ······<SummaryInformationList·count="0"> |
| 496346 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 496347 | ··········<TextSectionList·count="0"> | |
| 496348 | ··········</TextSectionList> | |
| 496349 | ··········<TextAuto> | |
| 496350 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 496351 | ··········</TextAuto> | |
| 496352 | ········</SummaryInformation> | |
| 496353 | ······</SummaryInformationList> | 495908 | ······</SummaryInformationList> |
| 496354 | ····</Disorder> | 495909 | ····</Disorder> |
| 496355 | ····<Disorder·id="25093"> | 495910 | ····<Disorder·id="25093"> |
| ⋮ | ⋮ |
| 508067 | ······</ExternalReferenceList> | 507622 | ······</ExternalReferenceList> |
| 508068 | ······<DisorderDisorderAssociationList·count="0"> | 507623 | ······<DisorderDisorderAssociationList·count="0"> |
| 508069 | ······</DisorderDisorderAssociationList> | 507624 | ······</DisorderDisorderAssociationList> |
| 508070 | ······<SummaryInformationList·count="1"> | 507625 | ······<SummaryInformationList·count="0"> |
| 508071 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 508072 | ··········<TextSectionList·count="0"> | |
| 508073 | ··········</TextSectionList> | |
| 508074 | ··········<TextAuto> | |
| 508075 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 508076 | ··········</TextAuto> | |
| 508077 | ········</SummaryInformation> | |
| 508078 | ······</SummaryInformationList> | 507626 | ······</SummaryInformationList> |
| 508079 | ····</Disorder> | 507627 | ····</Disorder> |
| 508080 | ····<Disorder·id="10851"> | 507628 | ····<Disorder·id="10851"> |
| ⋮ | ⋮ |
| 510054 | ··············<TextSectionType·id="16907"> | 509602 | ··············<TextSectionType·id="16907"> |
| 510055 | ················<Name·lang="en">Definition</Name> | 509603 | ················<Name·lang="en">Definition</Name> |
| 510056 | ··············</TextSectionType> | 509604 | ··············</TextSectionType> |
| 510057 | ··············<Contents>A·rare·disorder·characterized·by·sclerosis·of·the·intrahepatic·portal·veins,·non-cirrhotic·portal·hypertension,·asymptomatic·splenomegaly·and·recurrent·variceal·bleeding.</Contents> | 509605 | ··············<Contents>A·form·of·portosinusoidal·vascular·disease·characterized·histologically·by·varying·degrees·of·phlebosclerosis,·primarily·involving·the·small·and·medium·branches·of·the·portal·vein·with·heterogeneous·distribution,·in·the·absence·of·cirrhosis.</Contents> |
| 510058 | ············</TextSection> | 509606 | ············</TextSection> |
| 510059 | ··········</TextSectionList> | 509607 | ··········</TextSectionList> |
| 510060 | ········</SummaryInformation> | 509608 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 510383 | ······</ExternalReferenceList> | 509931 | ······</ExternalReferenceList> |
| 510384 | ······<DisorderDisorderAssociationList·count="0"> | 509932 | ······<DisorderDisorderAssociationList·count="0"> |
| 510385 | ······</DisorderDisorderAssociationList> | 509933 | ······</DisorderDisorderAssociationList> |
| 510386 | ······<SummaryInformationList·count="1"> | 509934 | ······<SummaryInformationList·count="0"> |
| 510387 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 510388 | ··········<TextSectionList·count="0"> | |
| 510389 | ··········</TextSectionList> | |
| 510390 | ··········<TextAuto> | |
| 510391 | ············<Info·lang="en">This·disease·is·not·rare·in·Europe.·It·does·not·belong·to·the·Orphanet·nomenclature·of·rare·diseases.</Info> | |
| 510392 | ··········</TextAuto> | |
| 510393 | ········</SummaryInformation> | |
| 510394 | ······</SummaryInformationList> | 509935 | ······</SummaryInformationList> |
| 510395 | ····</Disorder> | 509936 | ····</Disorder> |
| 510396 | ····<Disorder·id="10818"> | 509937 | ····<Disorder·id="10818"> |
| ⋮ | ⋮ |
| 511068 | ······</ExternalReferenceList> | 510609 | ······</ExternalReferenceList> |
| 511069 | ······<DisorderDisorderAssociationList·count="0"> | 510610 | ······<DisorderDisorderAssociationList·count="0"> |
| 511070 | ······</DisorderDisorderAssociationList> | 510611 | ······</DisorderDisorderAssociationList> |
| 511071 | ······<SummaryInformationList·count="1"> | 510612 | ······<SummaryInformationList·count="0"> |
| 511072 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 511073 | ··········<TextSectionList·count="0"> | |
| 511074 | ··········</TextSectionList> | |
| 511075 | ··········<TextAuto> | |
| 511076 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 511077 | ··········</TextAuto> | |
| 511078 | ········</SummaryInformation> | |
| 511079 | ······</SummaryInformationList> | 510613 | ······</SummaryInformationList> |
| 511080 | ····</Disorder> | 510614 | ····</Disorder> |
| 511081 | ····<Disorder·id="10827"> | 510615 | ····<Disorder·id="10827"> |
| ⋮ | ⋮ |
| 511193 | ······</ExternalReferenceList> | 510727 | ······</ExternalReferenceList> |
| 511194 | ······<DisorderDisorderAssociationList·count="0"> | 510728 | ······<DisorderDisorderAssociationList·count="0"> |
| 511195 | ······</DisorderDisorderAssociationList> | 510729 | ······</DisorderDisorderAssociationList> |
| 511196 | ······<SummaryInformationList·count="1"> | 510730 | ······<SummaryInformationList·count="0"> |
| 511197 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 511198 | ··········<TextSectionList·count="0"> | |
| 511199 | ··········</TextSectionList> | |
| 511200 | ··········<TextAuto> | |
| 511201 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 511202 | ··········</TextAuto> | |
| 511203 | ········</SummaryInformation> | |
| 511204 | ······</SummaryInformationList> | 510731 | ······</SummaryInformationList> |
| 511205 | ····</Disorder> | 510732 | ····</Disorder> |
| 511206 | ····<Disorder·id="10825"> | 510733 | ····<Disorder·id="10825"> |
| ⋮ | ⋮ |
| 520385 | ······</ExternalReferenceList> | 519912 | ······</ExternalReferenceList> |
| 520386 | ······<DisorderDisorderAssociationList·count="0"> | 519913 | ······<DisorderDisorderAssociationList·count="0"> |
| 520387 | ······</DisorderDisorderAssociationList> | 519914 | ······</DisorderDisorderAssociationList> |
| 520388 | ······<SummaryInformationList·count="1"> | 519915 | ······<SummaryInformationList·count="0"> |
| 520389 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 520390 | ··········<TextSectionList·count="0"> | |
| 520391 | ··········</TextSectionList> | |
| 520392 | ··········<TextAuto> | |
| 520393 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 520394 | ··········</TextAuto> | |
| 520395 | ········</SummaryInformation> | |
| 520396 | ······</SummaryInformationList> | 519916 | ······</SummaryInformationList> |
| 520397 | ····</Disorder> | 519917 | ····</Disorder> |
| 520398 | ····<Disorder·id="11189"> | 519918 | ····<Disorder·id="11189"> |
| ⋮ | ⋮ |
| 526220 | ··············<TextSectionType·id="16907"> | 525740 | ··············<TextSectionType·id="16907"> |
| 526221 | ················<Name·lang="en">Definition</Name> | 525741 | ················<Name·lang="en">Definition</Name> |
| 526222 | ··············</TextSectionType> | 525742 | ··············</TextSectionType> |
| 526223 | ··············<Contents>Central·areolar·choroidal·dystrophy·(CACD)·is·a·hereditary·macular·disorder,·usually·presenting·between·the·ages·of·30-60,·characterized·by·a·large·area·of·atrophy·in·the·centre·of·the·macula·and·the·loss·or·absence·of·photoreceptors,·retinal·pigment·epithelium·and·choriocapillaris·in·this·area,·resulting·in·a·progressive·decrease·in·visual·acuity.</Contents> | 525743 | ··············<Contents>A·hereditary·macular·disorder,·usually·presenting·between·the·ages·of·30-60,·characterized·by·a·large·area·of·atrophy·in·the·centre·of·the·macula·and·the·loss·or·absence·of·photoreceptors,·retinal·pigment·epithelium·and·choriocapillaris·in·this·area,·resulting·in·a·progressive·decrease·in·visual·acuity.</Contents> |
| 526224 | ············</TextSection> | 525744 | ············</TextSection> |
| 526225 | ··········</TextSectionList> | 525745 | ··········</TextSectionList> |
| 526226 | ········</SummaryInformation> | 525746 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 529187 | ··········<Value>8192</Value> | 528707 | ··········<Value>8192</Value> |
| 529188 | ··········<Label>Inactive</Label> | 528708 | ··········<Label>Inactive</Label> |
| 529189 | ········</DisorderFlag> | 528709 | ········</DisorderFlag> |
| 529190 | ········<DisorderFlag·id="461"> | 528710 | ········<DisorderFlag·id="455"> |
| 529191 | ··········<Value>1024</Value> | 528711 | ··········<Value>16</Value> |
| 529192 | ··········<Label>Obsolete·with·resources</Label> | 528712 | ··········<Label>Obsolete·entity</Label> |
| 529193 | ········</DisorderFlag> | 528713 | ········</DisorderFlag> |
| 529194 | ······</DisorderFlagList> | 528714 | ······</DisorderFlagList> |
| 529195 | ······<SynonymList·count="0"> | 528715 | ······<SynonymList·count="0"> |
| ⋮ | ⋮ |
| 532730 | ······</ExternalReferenceList> | 532250 | ······</ExternalReferenceList> |
| 532731 | ······<DisorderDisorderAssociationList·count="0"> | 532251 | ······<DisorderDisorderAssociationList·count="0"> |
| 532732 | ······</DisorderDisorderAssociationList> | 532252 | ······</DisorderDisorderAssociationList> |
| 532733 | ······<SummaryInformationList·count="1"> | 532253 | ······<SummaryInformationList·count="0"> |
| 532734 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 532735 | ··········<TextSectionList·count="0"> | |
| 532736 | ··········</TextSectionList> | |
| 532737 | ··········<TextAuto> | |
| 532738 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 532739 | ··········</TextAuto> | |
| 532740 | ········</SummaryInformation> | |
| 532741 | ······</SummaryInformationList> | 532254 | ······</SummaryInformationList> |
| 532742 | ····</Disorder> | 532255 | ····</Disorder> |
| 532743 | ····<Disorder·id="27660"> | 532256 | ····<Disorder·id="27660"> |
| ⋮ | ⋮ |
| 533218 | ··············<TextSectionType·id="16907"> | 532731 | ··············<TextSectionType·id="16907"> |
| 533219 | ················<Name·lang="en">Definition</Name> | 532732 | ················<Name·lang="en">Definition</Name> |
| 533220 | ··············</TextSectionType> | 532733 | ··············</TextSectionType> |
| 533221 | ··············<Contents>A·rare·non-infectious,·chronic·and·most·often·progressive·disease·of·the·urinary·bladder.·It·is·characterized·by·varying·combinations·and·extent·of·pain,·urinary·frequency·(pollakisuria),·nocturia·and·urgencyInterstitial·cystitis·(IC)·has·a·broad·intersection·with·Bladder·Pain·Syndrome·(BPS)·and·Overactive·Bladder·(OAB).</Contents> | 532734 | ··············<Contents>A·rare·non-infectious,·chronic·and·most·often·progressive·disease·of·the·urinary·bladder.·It·is·characterized·by·varying·combinations·and·extent·of·pain,·urinary·frequency·(pollakisuria),·nocturia·and·urgency.·Interstitial·cystitis·(IC)·has·a·broad·intersection·with·Bladder·Pain·Syndrome·(BPS)·and·Overactive·Bladder·(OAB).</Contents> |
| 533222 | ············</TextSection> | 532735 | ············</TextSection> |
| 533223 | ··········</TextSectionList> | 532736 | ··········</TextSectionList> |
| 533224 | ········</SummaryInformation> | 532737 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 533797 | ······</ExternalReferenceList> | 533310 | ······</ExternalReferenceList> |
| 533798 | ······<DisorderDisorderAssociationList·count="0"> | 533311 | ······<DisorderDisorderAssociationList·count="0"> |
| 533799 | ······</DisorderDisorderAssociationList> | 533312 | ······</DisorderDisorderAssociationList> |
| 533800 | ······<SummaryInformationList·count="1"> | 533313 | ······<SummaryInformationList·count="0"> |
| 533801 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 533802 | ··········<TextSectionList·count="0"> | |
| 533803 | ··········</TextSectionList> | |
| 533804 | ··········<TextAuto> | |
| 533805 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 533806 | ··········</TextAuto> | |
| 533807 | ········</SummaryInformation> | |
| 533808 | ······</SummaryInformationList> | 533314 | ······</SummaryInformationList> |
| 533809 | ····</Disorder> | 533315 | ····</Disorder> |
| 533810 | ····<Disorder·id="10475"> | 533316 | ····<Disorder·id="10475"> |
| ⋮ | ⋮ |
| 544868 | ··············<TextSectionType·id="16907"> | 544374 | ··············<TextSectionType·id="16907"> |
| 544869 | ················<Name·lang="en">Definition</Name> | 544375 | ················<Name·lang="en">Definition</Name> |
| 544870 | ··············</TextSectionType> | 544376 | ··············</TextSectionType> |
| 544871 | ··············<Contents>A·rare·genetic·skeletal·muscle·disease·characterized·by·childhood·onset·of·exercise-induced·progressive·impairment·of·muscle·relaxation,·stiffness,·cramps,·and·myalgia,·predominantly·in·the·arms,·legs,·and·face·(eyelids),·and,·biochemically,·by·a·reduced·sarcoplasmic·reticulum·Ca(2+)-ATPase·activity.·Symptoms·improve·after·a·few·minutes·of·rest·and·may·be·exacerbated·by·cold.·The·term·Brody·syndrome·refers·to·a·clinically·distinguishable·subset·of·patients·without·ATP2A1·mutations,·with·adolescence·or·adult·onset·and·selective·muscular·involvement,·in·which·myalgia·is·more·common.</Contents> | 544377 | ··············<Contents>A·rare·genetic·skeletal·muscle·disease·characterized·by·childhood·onset·of·exercise-induced·progressive·impairment·of·muscle·relaxation,·stiffness,·cramps,·and·myalgia,·predominantly·in·the·arms,·legs,·and·face·(eyelids),·and,·biochemically,·by·a·reduced·sarcoplasmic·reticulum·Ca(2+)-ATPase·activity.·Symptoms·improve·after·a·few·minutes·of·rest·and·may·be·exacerbated·by·cold.·The·term·Brody·syndrome·refers·to·a·clinically·distinguishable·subset·of·patients·without·<i>ATP2A1</i>·mutations,·with·adolescence·or·adult·onset·and·selective·muscular·involvement,·in·which·myalgia·is·more·common.</Contents> |
| 544872 | ············</TextSection> | 544378 | ············</TextSection> |
| 544873 | ··········</TextSectionList> | 544379 | ··········</TextSectionList> |
| 544874 | ········</SummaryInformation> | 544380 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 546563 | ··········</DisorderDisorderAssociationType> | 546069 | ··········</DisorderDisorderAssociationType> |
| 546564 | ········</DisorderDisorderAssociation> | 546070 | ········</DisorderDisorderAssociation> |
| 546565 | ······</DisorderDisorderAssociationList> | 546071 | ······</DisorderDisorderAssociationList> |
| 546566 | ······<SummaryInformationList·count="1"> | 546072 | ······<SummaryInformationList·count="0"> |
| 546567 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 546568 | ··········<TextSectionList·count="0"> | |
| 546569 | ··········</TextSectionList> | |
| 546570 | ··········<TextAuto> | |
| 546571 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 546572 | ··········</TextAuto> | |
| 546573 | ········</SummaryInformation> | |
| 546574 | ······</SummaryInformationList> | 546073 | ······</SummaryInformationList> |
| 546575 | ····</Disorder> | 546074 | ····</Disorder> |
| 546576 | ····<Disorder·id="10745"> | 546075 | ····<Disorder·id="10745"> |
| ⋮ | ⋮ |
| 553767 | ······</ExternalReferenceList> | 553266 | ······</ExternalReferenceList> |
| 553768 | ······<DisorderDisorderAssociationList·count="0"> | 553267 | ······<DisorderDisorderAssociationList·count="0"> |
| 553769 | ······</DisorderDisorderAssociationList> | 553268 | ······</DisorderDisorderAssociationList> |
| 553770 | ······<SummaryInformationList·count="1"> | 553269 | ······<SummaryInformationList·count="0"> |
| 553771 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 553772 | ··········<TextSectionList·count="0"> | |
| 553773 | ··········</TextSectionList> | |
| 553774 | ··········<TextAuto> | |
| 553775 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 553776 | ··········</TextAuto> | |
| 553777 | ········</SummaryInformation> | |
| 553778 | ······</SummaryInformationList> | 553270 | ······</SummaryInformationList> |
| 553779 | ····</Disorder> | 553271 | ····</Disorder> |
| 553780 | ····<Disorder·id="10607"> | 553272 | ····<Disorder·id="10607"> |
| ⋮ | ⋮ |
| 554356 | ··············<TextSectionType·id="16907"> | 553848 | ··············<TextSectionType·id="16907"> |
| 554357 | ················<Name·lang="en">Definition</Name> | 553849 | ················<Name·lang="en">Definition</Name> |
| 554358 | ··············</TextSectionType> | 553850 | ··············</TextSectionType> |
| 554359 | ··············<Contents>Nodular·regenerative·hyperplasia·of·the·liver·is·a·rare·parenchymatous·liver·disease·characterized·by·diffuse·benign·transformation·of·the·hepatic·parenchyma·into·multiple·small·nodules·(composed·of·regenerating·hepatocytes)·and·that·is·usually·asymptomatic·but·can·lead·to·the·development·of·non-cirrhotic·portal·hypertension·and·its·complications,·including·esophageal·variceal·bleeding,·hypersplenism·and·ascites.·It·is·often·associated·with·rheumatologic,·autoimmune,·hematologic,·and·myeloproliferative·disorders·as·well·as·various·immune·deficiency·states·and·exposure·certain·drugs·and·toxins.</Contents> | 553851 | ··············<Contents>A·form·of·portosinusoidal·vascular·disease·characterized·histologically·by·the·absence·of·cirrhosis·and·diffuse·benign·transformation·of·the·hepatic·parenchyma·into·multiple·small·nodules·(typically·1-3·mm).</Contents> |
| 554360 | ············</TextSection> | 553852 | ············</TextSection> |
| 554361 | ··········</TextSectionList> | 553853 | ··········</TextSectionList> |
| 554362 | ········</SummaryInformation> | 553854 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 556797 | ······</ExternalReferenceList> | 556289 | ······</ExternalReferenceList> |
| 556798 | ······<DisorderDisorderAssociationList·count="0"> | 556290 | ······<DisorderDisorderAssociationList·count="0"> |
| 556799 | ······</DisorderDisorderAssociationList> | 556291 | ······</DisorderDisorderAssociationList> |
| 556800 | ······<SummaryInformationList·count="1"> | 556292 | ······<SummaryInformationList·count="0"> |
| 556801 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 556802 | ··········<TextSectionList·count="0"> | |
| 556803 | ··········</TextSectionList> | |
| 556804 | ··········<TextAuto> | |
| 556805 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 556806 | ··········</TextAuto> | |
| 556807 | ········</SummaryInformation> | |
| 556808 | ······</SummaryInformationList> | 556293 | ······</SummaryInformationList> |
| 556809 | ····</Disorder> | 556294 | ····</Disorder> |
| 556810 | ····<Disorder·id="28123"> | 556295 | ····<Disorder·id="28123"> |
| ⋮ | ⋮ |
| 557798 | ······</ExternalReferenceList> | 557283 | ······</ExternalReferenceList> |
| 557799 | ······<DisorderDisorderAssociationList·count="0"> | 557284 | ······<DisorderDisorderAssociationList·count="0"> |
| 557800 | ······</DisorderDisorderAssociationList> | 557285 | ······</DisorderDisorderAssociationList> |
| 557801 | ······<SummaryInformationList·count="1"> | 557286 | ······<SummaryInformationList·count="0"> |
| 557802 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 557803 | ··········<TextSectionList·count="0"> | |
| 557804 | ··········</TextSectionList> | |
| 557805 | ··········<TextAuto> | |
| 557806 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 557807 | ··········</TextAuto> | |
| 557808 | ········</SummaryInformation> | |
| 557809 | ······</SummaryInformationList> | 557287 | ······</SummaryInformationList> |
| 557810 | ····</Disorder> | 557288 | ····</Disorder> |
| 557811 | ····<Disorder·id="27249"> | 557289 | ····<Disorder·id="27249"> |
| ⋮ | ⋮ |
| 563247 | ··············<TextSectionType·id="16907"> | 562725 | ··············<TextSectionType·id="16907"> |
| 563248 | ················<Name·lang="en">Definition</Name> | 562726 | ················<Name·lang="en">Definition</Name> |
| 563249 | ··············</TextSectionType> | 562727 | ··············</TextSectionType> |
| 563250 | ··············<Contents>Infantile·Bartter·syndrome·with·deafness,·a·phenotypic·variant·of·Bartter·syndrome·(see·this·term)·is·characterized·by·maternal·polyhydramnios,·premature·delivery,·polyuria·and·sensorineural·deafness·and·is·associated·with·hypokalemic·alkalosis,·increased·levels·of·plasma·renin·and·aldosterone,·low·blood·pressure,·and·vascular·resistance·to·angiotensin·II.</Contents> | 562728 | ··············<Contents>A·form·of·Bartter·syndrome·characterized·by·maternal·polyhydramnios,·premature·delivery,·salt·loss,·polyuria·and·sensorineural·deafness,·associated·with·hypokalemic·and·hypochloremic·metabolic·alkalosis,·increased·levels·of·plasma·renin·and·aldosterone,·and·low·to·normal·blood·pressure.·Urinary·calcium·excretion·rates·are·variable,·and·nephrocalcinosis·is·typically·absent.</Contents> |
| 563251 | ············</TextSection> | 562729 | ············</TextSection> |
| 563252 | ··········</TextSectionList> | 562730 | ··········</TextSectionList> |
| 563253 | ········</SummaryInformation> | 562731 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 566802 | ······</ExternalReferenceList> | 566280 | ······</ExternalReferenceList> |
| 566803 | ······<DisorderDisorderAssociationList·count="0"> | 566281 | ······<DisorderDisorderAssociationList·count="0"> |
| 566804 | ······</DisorderDisorderAssociationList> | 566282 | ······</DisorderDisorderAssociationList> |
| 566805 | ······<SummaryInformationList·count="1"> | 566283 | ······<SummaryInformationList·count="0"> |
| 566806 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 566807 | ··········<TextSectionList·count="0"> | |
| 566808 | ··········</TextSectionList> | |
| 566809 | ··········<TextAuto> | |
| 566810 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 566811 | ··········</TextAuto> | |
| 566812 | ········</SummaryInformation> | |
| 566813 | ······</SummaryInformationList> | 566284 | ······</SummaryInformationList> |
| 566814 | ····</Disorder> | 566285 | ····</Disorder> |
| 566815 | ····<Disorder·id="11981"> | 566286 | ····<Disorder·id="11981"> |
| ⋮ | ⋮ |
| 572986 | ··············<TextSectionType·id="16907"> | 572457 | ··············<TextSectionType·id="16907"> |
| 572987 | ················<Name·lang="en">Definition</Name> | 572458 | ················<Name·lang="en">Definition</Name> |
| 572988 | ··············</TextSectionType> | 572459 | ··············</TextSectionType> |
| 572989 | ··············<Contents>A·rare·genetic·neurological·disorder·characterized·by·the·association·of·congenital·spastic·paraplegia·with·global·developmental·delay·and·intellectual·disability,·ophthalmologic·abnormalities·(including·nystagmus,·reduced·visual·acuity,·or·hypermetropia),·and·obesity.·Additional·manifestations·are·brachyplagiocephaly·and·dysmorphic·facial·features.·Brain·imaging·may·show·dilated·ventricles,·abnormal·myelination,·and·mild·generalized·atrophy.·Homozygous·loss-of-function·variants·of·KIDINS220·associated·with·a·fetal·lethal·phenotype·with·ventriculomegaly·and·limb·contractures·have·been·reported.</Contents> | 572460 | ··············<Contents>A·rare·genetic·neurological·disorder·characterized·by·the·association·of·congenital·spastic·paraplegia·with·global·developmental·delay·and·intellectual·disability,·ophthalmologic·abnormalities·(including·nystagmus,·reduced·visual·acuity,·or·hypermetropia),·and·obesity.·Additional·manifestations·are·brachyplagiocephaly·and·dysmorphic·facial·features.·Brain·imaging·may·show·dilated·ventricles,·abnormal·myelination,·and·mild·generalized·atrophy.·Homozygous·loss-of-function·variants·of·<i>KIDINS220</i>·associated·with·a·fetal·lethal·phenotype·with·ventriculomegaly·and·limb·contractures·have·been·reported.</Contents> |
| 572990 | ············</TextSection> | 572461 | ············</TextSection> |
| 572991 | ··········</TextSectionList> | 572462 | ··········</TextSectionList> |
| 572992 | ········</SummaryInformation> | 572463 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 575909 | ··············<TextSectionType·id="16907"> | 575380 | ··············<TextSectionType·id="16907"> |
| 575910 | ················<Name·lang="en">Definition</Name> | 575381 | ················<Name·lang="en">Definition</Name> |
| 575911 | ··············</TextSectionType> | 575382 | ··············</TextSectionType> |
| 575912 | ··············<Contents>A·rare·ciliopathy·with·major·skeletal·involvement·characterized·by·a·hypoplastic·thorax·with·short·ribs·and·protuberant·abdomen,·micromelia·with·particularly·short·tibiae·with·ovoid·configuration,·pre-·and·postaxial·polydactyly,·brachydactyly,·hypoplasia·or·aplasia·of·nails,·and·dysmorphic·craniofacial·features·(such·as·prominent·forehead,·low-set·and·malformed·ears,·short·and·flat·nose,·lobulated·tongue,·micrognathia,·and·cleft·lip/palate).·Additional·reported·manifestations·include·urogenital,·gastrointestinal,·cardiovascular,·and·cerebral·malformations,·among·others.·The·condition·is·fetal·in·the·neonatal·period.</Contents> | 575383 | ··············<Contents>A·rare·ciliopathy·with·major·skeletal·involvement·characterized·by·a·hypoplastic·thorax·with·short·ribs·and·protuberant·abdomen,·micromelia·with·particularly·short·tibiae·with·ovoid·configuration,·pre-·and·postaxial·polydactyly,·brachydactyly,·hypoplasia·or·aplasia·of·nails,·and·dysmorphic·craniofacial·features·(such·as·prominent·forehead,·low-set·and·malformed·ears,·short·and·flat·nose,·lobulated·tongue,·micrognathia,·and·cleft·lip/palate).·Additional·reported·manifestations·include·urogenital,·gastrointestinal,·cardiovascular,·and·cerebral·malformations,·among·others.·The·condition·is·fatal·in·the·neonatal·period.</Contents> |
| 575913 | ············</TextSection> | 575384 | ············</TextSection> |
| 575914 | ··········</TextSectionList> | 575385 | ··········</TextSectionList> |
| 575915 | ········</SummaryInformation> | 575386 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 577837 | ··············<TextSectionType·id="16907"> | 577308 | ··············<TextSectionType·id="16907"> |
| 577838 | ················<Name·lang="en">Definition</Name> | 577309 | ················<Name·lang="en">Definition</Name> |
| 577839 | ··············</TextSectionType> | 577310 | ··············</TextSectionType> |
| 577840 | ··············<Contents>Renal·cysts·and·diabetes·syndrome·(RCAD)·is·a·rare·form·of·maturity-onset·diabetes·of·the·young·(MODY;·see·this·term)·characterized·clinically·by·heterogeneous·cystic·renal·disease·and·early-onset·familial·non-autoimmune·diabetes.·Pancreatic·atrophy,·liver·dysfunction·and·genital·tract·anomalies·are·also·features·of·the·syndrome.</Contents> | 577311 | ··············<Contents>A·form·of·autosomal·dominant·tubulointerstitial·kidney·disease·(ADTKD)·due·to·variants·in·or·whole·gene·deletions·of·<i>HNF1B</i>,·which·is·characterized·by·chronic·tubulo-interstitial·nephritis,·that·manifests·with·nonsignificant·urinalysis·and·slowly·progressive·renal·failure.·It·can·be·associated·with·cystic·kidney·dysplasia,·early·onset·diabetes·and·extrarenal·manifestations.</Contents> |
| 577841 | ············</TextSection> | 577312 | ············</TextSection> |
| 577842 | ··········</TextSectionList> | 577313 | ··········</TextSectionList> |
| 577843 | ········</SummaryInformation> | 577314 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 590774 | ······</ExternalReferenceList> | 590245 | ······</ExternalReferenceList> |
| 590775 | ······<DisorderDisorderAssociationList·count="0"> | 590246 | ······<DisorderDisorderAssociationList·count="0"> |
| 590776 | ······</DisorderDisorderAssociationList> | 590247 | ······</DisorderDisorderAssociationList> |
| 590777 | ······<SummaryInformationList·count="1"> | 590248 | ······<SummaryInformationList·count="0"> |
| 590778 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 590779 | ··········<TextSectionList·count="0"> | |
| 590780 | ··········</TextSectionList> | |
| 590781 | ··········<TextAuto> | |
| 590782 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 590783 | ··········</TextAuto> | |
| 590784 | ········</SummaryInformation> | |
| 590785 | ······</SummaryInformationList> | 590249 | ······</SummaryInformationList> |
| 590786 | ····</Disorder> | 590250 | ····</Disorder> |
| 590787 | ····<Disorder·id="12103"> | 590251 | ····<Disorder·id="12103"> |
| ⋮ | ⋮ |
| 592214 | ······</ExternalReferenceList> | 591678 | ······</ExternalReferenceList> |
| 592215 | ······<DisorderDisorderAssociationList·count="0"> | 591679 | ······<DisorderDisorderAssociationList·count="0"> |
| 592216 | ······</DisorderDisorderAssociationList> | 591680 | ······</DisorderDisorderAssociationList> |
| 592217 | ······<SummaryInformationList·count="1"> | 591681 | ······<SummaryInformationList·count="0"> |
| 592218 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 592219 | ··········<TextSectionList·count="0"> | |
| 592220 | ··········</TextSectionList> | |
| 592221 | ··········<TextAuto> | |
| 592222 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 592223 | ··········</TextAuto> | |
| 592224 | ········</SummaryInformation> | |
| 592225 | ······</SummaryInformationList> | 591682 | ······</SummaryInformationList> |
| 592226 | ····</Disorder> | 591683 | ····</Disorder> |
| 592227 | ····<Disorder·id="11422"> | 591684 | ····<Disorder·id="11422"> |
| ⋮ | ⋮ |
| 592396 | ··············<TextSectionType·id="16907"> | 591853 | ··············<TextSectionType·id="16907"> |
| 592397 | ················<Name·lang="en">Definition</Name> | 591854 | ················<Name·lang="en">Definition</Name> |
| 592398 | ··············</TextSectionType> | 591855 | ··············</TextSectionType> |
| 592399 | ··············<Contents>Epidermolysis·bullosa·simplex·with·mottled·pigmentation·(EBS-MP)·is·a·basal·subtype·of·epidermolysis·bullosa·simplex·(EBS,·see·this·term)·characterized·by·generalized·blistering·with·mottled·or·reticulate·brown·pigmentation.</Contents> | 591856 | ··············<Contents>A·rare,·inherited,·epidermolysis·bullosa·simplex·characterized·by·neonatal·or·infantile·onset·of·generalized·blistering·with·mottled·or·reticulate·brown·pigmentation·developing·later.·Blistering·is·often·accompanied·by·mild·nail·dystrophy·and·focal·palmoplantar·keratoderma,·and·rarely·by·milia·and·mostly·affects·the·limbs·and·trunk.</Contents> |
| 592400 | ············</TextSection> | 591857 | ············</TextSection> |
| 592401 | ··········</TextSectionList> | 591858 | ··········</TextSectionList> |
| 592402 | ········</SummaryInformation> | 591859 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 604307 | ··············<TextSectionType·id="16907"> | 603764 | ··············<TextSectionType·id="16907"> |
| 604308 | ················<Name·lang="en">Definition</Name> | 603765 | ················<Name·lang="en">Definition</Name> |
| 604309 | ··············</TextSectionType> | 603766 | ··············</TextSectionType> |
| 604310 | ··············<Contents>A·rare,·non-rhizomelic,·chondrodysplasia·punctata·syndrome·characterized,·radiologically,·by·stippled·calcifications·and·disproportionate,·short·metacarpals·and·tibiae·(with·characteristic·overshoot·of·the·proximal·fibula),·clincially·manifesting·with·severe·short·stature,·bilateral·shortening·of·upper·and·lower·limbs,·flat·midface·and·nose,·in·the·absence·of·cataracts·and·cutaneous·anomalies.·Neonatal·tachnypnea,·hydrocephalus·and·mild·developmental·delay·have·been·seldomly·associated.·Additional·radiologic·features·include·bowed·long·bones,·platyspondyly·and/or·vertebral·clefts.</Contents> | 603767 | ··············<Contents>A·rare,·non-rhizomelic,·chondrodysplasia·punctata·syndrome·characterized,·radiologically,·by·stippled·calcifications·and·disproportionate,·short·metacarpals·and·tibiae·(with·characteristic·overshoot·of·the·proximal·fibula),·clinically·manifesting·with·severe·short·stature,·bilateral·shortening·of·upper·and·lower·limbs,·flat·midface·and·nose,·in·the·absence·of·cataracts·and·cutaneous·anomalies.·Neonatal·tachnypnea,·hydrocephalus·and·mild·developmental·delay·have·been·seldomly·associated.·Additional·radiologic·features·include·bowed·long·bones,·platyspondyly·and/or·vertebral·clefts.</Contents> |
| 604311 | ············</TextSection> | 603768 | ············</TextSection> |
| 604312 | ··········</TextSectionList> | 603769 | ··········</TextSectionList> |
| 604313 | ········</SummaryInformation> | 603770 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 609197 | ··············<TextSectionType·id="16907"> | 608654 | ··············<TextSectionType·id="16907"> |
| 609198 | ················<Name·lang="en">Definition</Name> | 608655 | ················<Name·lang="en">Definition</Name> |
| 609199 | ··············</TextSectionType> | 608656 | ··············</TextSectionType> |
| 609200 | ··············<Contents>A·plasma·cell·disorder·characterized·by·the·aggregation·and·deposition·of·insoluble·amyloid·fibrils·derived·from·misfolding·of·monoclonal·immunoglobulin·light·chains·usually·produced·by·a·plasma·cell·tumor.·It·usually·presents·as·primary·systemic·amyloidosis·(PSA)·with·multiple·organ·involvement·and·less·frequently·as·primary·localized·amyloidosis·(PLA)·restricted·to·a·single·organ.</Contents> | 608657 | ··············<Contents>A·clonal·B-cell·disorder·characterized·by·the·aggregation·and·deposition·of·insoluble·amyloid·fibrils·derived·from·misfolding·of·monoclonal·immunoglobulin·light·chains.·It·usually·presents·as·systemic·AL·amyloidosis·with·involvement·of·one·or·more·parenchymal·organ(s)·and,·less·frequently,·as·localized·amyloidosis·with·usually·nodular·deposits·restricted·to·a·single·organ·and/or·system.</Contents> |
| 609201 | ············</TextSection> | 608658 | ············</TextSection> |
| 609202 | ··········</TextSectionList> | 608659 | ··········</TextSectionList> |
| 609203 | ········</SummaryInformation> | 608660 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 609403 | ··············<TextSectionType·id="16907"> | 608860 | ··············<TextSectionType·id="16907"> |
| 609404 | ················<Name·lang="en">Definition</Name> | 608861 | ················<Name·lang="en">Definition</Name> |
| 609405 | ··············</TextSectionType> | 608862 | ··············</TextSectionType> |
| 609406 | ··············<Contents>Secondary·amyloidosis·is·a·form·of·amyloidosis·(see·this·term),·that·complicates·chronic·inflammatory·disorders·(mainly·rheumatoid·arthritis,·see·this·term)·and·is·characterized·by·the·aggregation·and·deposition·of·amyloid·fibrils·composed·of·serum·amyloid·A·protein,·an·acute·phase·reactant.·Although·spleen,·suprarenal·gland,·liver·and·gut·are·frequent·sites·of·amyloid·deposition,·the·clinical·picture·is·dominated·by·renal·involvement.</Contents> | 608863 | ··············<Contents>A·rare·amyloidosis·that·complicates·chronic·inflammatory·disorders·and·is·characterized·by·the·aggregation·and·deposition·of·amyloid·fibrils·composed·of·serum·amyloid·A·protein,·an·acute·phase·reactant.·The·kidney·is·involved·in·virtually·all·patients·and·dominates·the·clinical·picture.·Other·frequently·involved·sites·are·the·liver,·the·spleen,·suprarenal·gland,·gut·and·less·frequently·the·heart.</Contents> |
| 609407 | ············</TextSection> | 608864 | ············</TextSection> |
| 609408 | ··········</TextSectionList> | 608865 | ··········</TextSectionList> |
| 609409 | ········</SummaryInformation> | 608866 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 612765 | ······</ExternalReferenceList> | 612222 | ······</ExternalReferenceList> |
| 612766 | ······<DisorderDisorderAssociationList·count="0"> | 612223 | ······<DisorderDisorderAssociationList·count="0"> |
| 612767 | ······</DisorderDisorderAssociationList> | 612224 | ······</DisorderDisorderAssociationList> |
| 612768 | ······<SummaryInformationList·count="1"> | 612225 | ······<SummaryInformationList·count="0"> |
| 612769 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 612770 | ··········<TextSectionList·count="0"> | |
| 612771 | ··········</TextSectionList> | |
| 612772 | ··········<TextAuto> | |
| 612773 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 612774 | ··········</TextAuto> | |
| 612775 | ········</SummaryInformation> | |
| 612776 | ······</SummaryInformationList> | 612226 | ······</SummaryInformationList> |
| 612777 | ····</Disorder> | 612227 | ····</Disorder> |
| 612778 | ····<Disorder·id="11752"> | 612228 | ····<Disorder·id="11752"> |
| ⋮ | ⋮ |
| 621285 | ··············<TextSectionType·id="16907"> | 620735 | ··············<TextSectionType·id="16907"> |
| 621286 | ················<Name·lang="en">Definition</Name> | 620736 | ················<Name·lang="en">Definition</Name> |
| 621287 | ··············</TextSectionType> | 620737 | ··············</TextSectionType> |
| 621288 | ··············<Contents>A·rare·genetic·disease·characterized·by·intrauterine·growth·restriction,·metaphyseal·dysplasia,·congenital·adrenal·hypoplasia,·and·genital·anomalies·(such·as·cryptorchidism,·posterior·hypospadias,·and·micropenis).·Patients·may·present·shortly·after·birth·with·severe·adrenal·insufficiency.·Additional·manifestations·include·postnatal·growth·failure·and·delayed·bone·age,·mild·developmental·delay,·macrocephaly,·mild·facial·dysmorphism·(with·frontal·bossing,·wide·nasal·bridge,·and·small,·low-set·ears),·epiphyseal·dysplasia,·and·hypercalcemia/hypercalcuria,·among·others.</Contents> | 620738 | ··············<Contents>A·rare·genetic·disease·characterized·by·intrauterine·growth·restriction,·metaphyseal·dysplasia,·congenital·adrenal·hypoplasia,·and·genital·anomalies·(such·as·cryptorchidism,·posterior·hypospadias,·and·micropenis).·Patients·may·present·shortly·after·birth·with·severe·adrenal·insufficiency.·Additional·manifestations·include·postnatal·growth·failure·and·delayed·bone·age,·mild·developmental·delay,·macrocephaly,·mild·facial·dysmorphism·(with·frontal·bossing,·wide·nasal·bridge,·and·small,·low-set·ears),·epiphyseal·dysplasia,·and·hypercalcemia/hypercalciuria,·among·others.</Contents> |
| 621289 | ············</TextSection> | 620739 | ············</TextSection> |
| 621290 | ··········</TextSectionList> | 620740 | ··········</TextSectionList> |
| 621291 | ········</SummaryInformation> | 620741 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 622079 | ······</DisorderFlagList> | 621529 | ······</DisorderFlagList> |
| 622080 | ······<SynonymList·count="0"> | 621530 | ······<SynonymList·count="0"> |
| 622081 | ······</SynonymList> | 621531 | ······</SynonymList> |
| 622082 | ······<DisorderType·id="21394"> | 621532 | ······<DisorderType·id="21415"> |
| 622083 | ········<Name·lang="en">Disease</Name> | 621533 | ········<Name·lang="en">Morphological·anomaly</Name> |
| 622084 | ······</DisorderType> | 621534 | ······</DisorderType> |
| 622085 | ······<DisorderGroup·id="36547"> | 621535 | ······<DisorderGroup·id="36547"> |
| 622086 | ········<Name·lang="en">Disorder</Name> | 621536 | ········<Name·lang="en">Disorder</Name> |
| ⋮ | ⋮ |
| 623796 | ········</SummaryInformation> | 623246 | ········</SummaryInformation> |
| 623797 | ······</SummaryInformationList> | 623247 | ······</SummaryInformationList> |
| 623798 | ····</Disorder> | 623248 | ····</Disorder> |
| | 623249 | ····<Disorder·id="30684"> |
| | 623250 | ······<OrphaCode>610573</OrphaCode> |
| | 623251 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610573</ExpertLink> |
| | 623252 | ······<Name·lang="en">CLCN6-related·childhood·onset·progressive·neurodegeneration-peripheral·neuropathy-syndrome</Name> |
| | 623253 | ······<DisorderFlagList·count="1"> |
| | 623254 | ········<DisorderFlag·id="475"> |
| | 623255 | ··········<Value>1</Value> |
| | 623256 | ··········<Label></Label> |
| | 623257 | ········</DisorderFlag> |
| | 623258 | ······</DisorderFlagList> |
| | 623259 | ······<SynonymList·count="0"> |
| | 623260 | ······</SynonymList> |
| | 623261 | ······<DisorderType·id="21394"> |
| | 623262 | ········<Name·lang="en">Disease</Name> |
| | 623263 | ······</DisorderType> |
| | 623264 | ······<DisorderGroup·id="36547"> |
| | 623265 | ········<Name·lang="en">Disorder</Name> |
| | 623266 | ······</DisorderGroup> |
| | 623267 | ······<ExternalReferenceList·count="1"> |
| | 623268 | ········<ExternalReference·id="200356"> |
| | 623269 | ··········<Source>OMIM</Source> |
| | 623270 | ··········<Reference>619173</Reference> |
| | 623271 | ··········<DisorderMappingRelation·id="21527"> |
| | 623272 | ············<Name·lang="en">E·(Exact·mapping:·the·two·concepts·are·equivalent)</Name> |
| | 623273 | ··········</DisorderMappingRelation> |
| | 623274 | ··········<DisorderMappingICDRelation/> |
| | 623275 | ··········<DisorderMappingValidationStatus·id="21611"> |
| | 623276 | ············<Name·lang="en">Validated</Name> |
| | 623277 | ··········</DisorderMappingValidationStatus> |
| | 623278 | ········</ExternalReference> |
| | 623279 | ······</ExternalReferenceList> |
| | 623280 | ······<DisorderDisorderAssociationList·count="0"> |
| | 623281 | ······</DisorderDisorderAssociationList> |
| | 623282 | ······<SummaryInformationList·count="0"> |
| | 623283 | ······</SummaryInformationList> |
| | 623284 | ····</Disorder> |
| 623799 | ····<Disorder·id="13086"> | 623285 | ····<Disorder·id="13086"> |
| 623800 | ······<OrphaCode>98068</OrphaCode> | 623286 | ······<OrphaCode>98068</OrphaCode> |
| 623801 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98068</ExpertLink> | 623287 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98068</ExpertLink> |
| ⋮ | ⋮ |
| 623988 | ········</SummaryInformation> | 623474 | ········</SummaryInformation> |
| 623989 | ······</SummaryInformationList> | 623475 | ······</SummaryInformationList> |
| 623990 | ····</Disorder> | 623476 | ····</Disorder> |
| | 623477 | ····<Disorder·id="30683"> |
| | 623478 | ······<OrphaCode>610569</OrphaCode> |
| | 623479 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610569</ExpertLink> |
| | 623480 | ······<Name·lang="en">KIAA1109-related·early·lethal-congenital·brain·mlaformations-arthrogryposis-syndrome</Name> |
| | 623481 | ······<DisorderFlagList·count="1"> |
| | 623482 | ········<DisorderFlag·id="475"> |
| | 623483 | ··········<Value>1</Value> |
| | 623484 | ··········<Label></Label> |
| | 623485 | ········</DisorderFlag> |
| | 623486 | ······</DisorderFlagList> |
| | 623487 | ······<SynonymList·count="1"> |
| | 623488 | ········<Synonym·lang="en">ALKURAYA-KUCINSKAS·SYNDROME</Synonym> |
| | 623489 | ······</SynonymList> |
| | 623490 | ······<DisorderType·id="21394"> |
| | 623491 | ········<Name·lang="en">Disease</Name> |
| | 623492 | ······</DisorderType> |
| | 623493 | ······<DisorderGroup·id="36547"> |
| | 623494 | ········<Name·lang="en">Disorder</Name> |
| | 623495 | ······</DisorderGroup> |
| | 623496 | ······<ExternalReferenceList·count="1"> |
| | 623497 | ········<ExternalReference·id="200353"> |
| | 623498 | ··········<Source>OMIM</Source> |
| | 623499 | ··········<Reference>617822</Reference> |
| | 623500 | ··········<DisorderMappingRelation·id="21527"> |
| | 623501 | ············<Name·lang="en">E·(Exact·mapping:·the·two·concepts·are·equivalent)</Name> |
| | 623502 | ··········</DisorderMappingRelation> |
| | 623503 | ··········<DisorderMappingICDRelation/> |
| | 623504 | ··········<DisorderMappingValidationStatus·id="21611"> |
| | 623505 | ············<Name·lang="en">Validated</Name> |
| | 623506 | ··········</DisorderMappingValidationStatus> |
| | 623507 | ········</ExternalReference> |
| | 623508 | ······</ExternalReferenceList> |
| | 623509 | ······<DisorderDisorderAssociationList·count="0"> |
| | 623510 | ······</DisorderDisorderAssociationList> |
| | 623511 | ······<SummaryInformationList·count="0"> |
| | 623512 | ······</SummaryInformationList> |
| | 623513 | ····</Disorder> |
| 623991 | ····<Disorder·id="13082"> | 623514 | ····<Disorder·id="13082"> |
| 623992 | ······<OrphaCode>98064</OrphaCode> | 623515 | ······<OrphaCode>98064</OrphaCode> |
| 623993 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98064</ExpertLink> | 623516 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98064</ExpertLink> |
| ⋮ | ⋮ |
| 625827 | ········</SummaryInformation> | 625350 | ········</SummaryInformation> |
| 625828 | ······</SummaryInformationList> | 625351 | ······</SummaryInformationList> |
| 625829 | ····</Disorder> | 625352 | ····</Disorder> |
| | 625353 | ····<Disorder·id="30477"> |
| | 625354 | ······<OrphaCode>600691</OrphaCode> |
| | 625355 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600691</ExpertLink> |
| | 625356 | ······<Name·lang="en">Combined·deficiency·of·factor·VII·and·factor·X</Name> |
| | 625357 | ······<DisorderFlagList·count="1"> |
| | 625358 | ········<DisorderFlag·id="475"> |
| | 625359 | ··········<Value>1</Value> |
| | 625360 | ··········<Label></Label> |
| | 625361 | ········</DisorderFlag> |
| | 625362 | ······</DisorderFlagList> |
| | 625363 | ······<SynonymList·count="0"> |
| | 625364 | ······</SynonymList> |
| | 625365 | ······<DisorderType·id="21394"> |
| | 625366 | ········<Name·lang="en">Disease</Name> |
| | 625367 | ······</DisorderType> |
| | 625368 | ······<DisorderGroup·id="36547"> |
| | 625369 | ········<Name·lang="en">Disorder</Name> |
| | 625370 | ······</DisorderGroup> |
| | 625371 | ······<ExternalReferenceList·count="0"> |
| | 625372 | ······</ExternalReferenceList> |
| | 625373 | ······<DisorderDisorderAssociationList·count="0"> |
| | 625374 | ······</DisorderDisorderAssociationList> |
| | 625375 | ······<SummaryInformationList·count="0"> |
| | 625376 | ······</SummaryInformationList> |
| | 625377 | ····</Disorder> |
| 625830 | ····<Disorder·id="30478"> | 625378 | ····<Disorder·id="30478"> |
| 625831 | ······<OrphaCode>600731</OrphaCode> | 625379 | ······<OrphaCode>600731</OrphaCode> |
| 625832 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600731</ExpertLink> | 625380 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600731</ExpertLink> |
| ⋮ | ⋮ |
| 629048 | ··············<TextSectionType·id="16907"> | 628596 | ··············<TextSectionType·id="16907"> |
| 629049 | ················<Name·lang="en">Definition</Name> | 628597 | ················<Name·lang="en">Definition</Name> |
| 629050 | ··············</TextSectionType> | 628598 | ··············</TextSectionType> |
| 629051 | ··············<Contents>A·rare,·life-threatening·mutliple·congenital·anomalies·syndrome·characterized·by·intrauterine·growth·restriction,·postnatal·failure·to·thrive·and·facial·dysmorphism·(microcephaly·or·trigonocephaly,·prominent·glabellar·nevus·flammeus·(simplex)·fading·with·age,·hypotonic·facies,·low·frontal·and·temporal·hairline,·hirsutism,·synophrys,·prominent·or·proptotic·eyes,·hypertelorism,·upslanting·palpebral·fissures,·depressed·and·wide·nasal·bridge,·anteverted·nares,·full·cheeks,·low-set·and·posteriorly·angulated·ears,·cleft·lip·and/or·palate,·high·arched·palate,·micrognathia·and/or·retrognathia).·A·specific·posture·(BOS·posture)·is·also·reported,·characterized·by·external·rotation·and/or·adduction·of·the·shoulders,·flexion·at·the·elbows·and·wrists,·ulnar·deviation·of·the·wrists·and/or·the·metacarpophalangeal·joints.·Additional·features·mainly·include·severe·feeding·difficulties,·chronic·emesis,·recurrent·infections,·hypertrichosis,·seizures,·truncal·hypotonia·and·hypertonic·extremities,·as·well·as·cerebral,·ocular,·cardiac,·and·other·skeletal·anomalies,·central·obesity,·severe·intellectual·disability,·sleep·disturbance,·urinary·retention,·and·an·increased·risk·for·renal·stones·and·Wilms·tumor.</Contents> | 628599 | ··············<Contents>A·rare·multiple·congenital·anomalies·syndrome·characterized·by·intrauterine·growth·retardation·(IUGR),·postnatal·failure·to·thrive,·severe·feeding·difficulties,·microcephaly/trigonocephaly,·facial·dysmorphism,·a·recognizable·upper·limb·posture·and·severe·developmental·delay.·The·upper·limb·posture·consists·of·internal·rotation·of·the·shoulders,·flexion·of·the·elbows,·ulnar·deviation·of·wrists·and/or·metacarpophalangeal·joints.</Contents> |
| 629052 | ············</TextSection> | 628600 | ············</TextSection> |
| 629053 | ··········</TextSectionList> | 628601 | ··········</TextSectionList> |
| 629054 | ········</SummaryInformation> | 628602 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 634101 | ········</SummaryInformation> | 633649 | ········</SummaryInformation> |
| 634102 | ······</SummaryInformationList> | 633650 | ······</SummaryInformationList> |
| 634103 | ····</Disorder> | 633651 | ····</Disorder> |
| | 633652 | ····<Disorder·id="30241"> |
| | 633653 | ······<OrphaCode>600194</OrphaCode> |
| | 633654 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600194</ExpertLink> |
| | 633655 | ······<Name·lang="en">Factor·V·Atlanta·bleeding·disorder</Name> |
| | 633656 | ······<DisorderFlagList·count="1"> |
| | 633657 | ········<DisorderFlag·id="475"> |
| | 633658 | ··········<Value>1</Value> |
| | 633659 | ··········<Label></Label> |
| | 633660 | ········</DisorderFlag> |
| | 633661 | ······</DisorderFlagList> |
| | 633662 | ······<SynonymList·count="0"> |
| | 633663 | ······</SynonymList> |
| | 633664 | ······<DisorderType·id="21443"> |
| | 633665 | ········<Name·lang="en">Etiological·subtype</Name> |
| | 633666 | ······</DisorderType> |
| | 633667 | ······<DisorderGroup·id="36554"> |
| | 633668 | ········<Name·lang="en">Subtype·of·disorder</Name> |
| | 633669 | ······</DisorderGroup> |
| | 633670 | ······<ExternalReferenceList·count="0"> |
| | 633671 | ······</ExternalReferenceList> |
| | 633672 | ······<DisorderDisorderAssociationList·count="0"> |
| | 633673 | ······</DisorderDisorderAssociationList> |
| | 633674 | ······<SummaryInformationList·count="0"> |
| | 633675 | ······</SummaryInformationList> |
| | 633676 | ····</Disorder> |
| 634104 | ····<Disorder·id="13028"> | 633677 | ····<Disorder·id="13028"> |
| 634105 | ······<OrphaCode>98010</OrphaCode> | 633678 | ······<OrphaCode>98010</OrphaCode> |
| 634106 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98010</ExpertLink> | 633679 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98010</ExpertLink> |
| ⋮ | ⋮ |
| 636412 | ······</ExternalReferenceList> | 635985 | ······</ExternalReferenceList> |
| 636413 | ······<DisorderDisorderAssociationList·count="0"> | 635986 | ······<DisorderDisorderAssociationList·count="0"> |
| 636414 | ······</DisorderDisorderAssociationList> | 635987 | ······</DisorderDisorderAssociationList> |
| 636415 | ······<SummaryInformationList·count="1"> | 635988 | ······<SummaryInformationList·count="0"> |
| 636416 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 636417 | ··········<TextSectionList·count="0"> | |
| 636418 | ··········</TextSectionList> | |
| 636419 | ··········<TextAuto> | |
| 636420 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 636421 | ··········</TextAuto> | |
| 636422 | ········</SummaryInformation> | |
| 636423 | ······</SummaryInformationList> | 635989 | ······</SummaryInformationList> |
| 636424 | ····</Disorder> | 635990 | ····</Disorder> |
| 636425 | ····<Disorder·id="12665"> | 635991 | ····<Disorder·id="12665"> |
| ⋮ | ⋮ |
| 636457 | ······</ExternalReferenceList> | 636023 | ······</ExternalReferenceList> |
| 636458 | ······<DisorderDisorderAssociationList·count="0"> | 636024 | ······<DisorderDisorderAssociationList·count="0"> |
| 636459 | ······</DisorderDisorderAssociationList> | 636025 | ······</DisorderDisorderAssociationList> |
| 636460 | ······<SummaryInformationList·count="1"> | 636026 | ······<SummaryInformationList·count="0"> |
| 636461 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 636462 | ··········<TextSectionList·count="0"> | |
| 636463 | ··········</TextSectionList> | |
| 636464 | ··········<TextAuto> | |
| 636465 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 636466 | ··········</TextAuto> | |
| 636467 | ········</SummaryInformation> | |
| 636468 | ······</SummaryInformationList> | 636027 | ······</SummaryInformationList> |
| 636469 | ····</Disorder> | 636028 | ····</Disorder> |
| 636470 | ····<Disorder·id="12647"> | 636029 | ····<Disorder·id="12647"> |
| ⋮ | ⋮ |
| 640183 | ··············<TextSectionType·id="16907"> | 639742 | ··············<TextSectionType·id="16907"> |
| 640184 | ················<Name·lang="en">Definition</Name> | 639743 | ················<Name·lang="en">Definition</Name> |
| 640185 | ··············</TextSectionType> | 639744 | ··············</TextSectionType> |
| 640186 | ··············<Contents>A·rare,·acquired·motor·neuron·disease·characterized·by·a·slowly·progressive,·unilateral,·ascending·or·descending·hemplegia,·associated·to·unilateral·or·asymmetrical·pyramidal·signs·and·no·sensory·loss.·It·is·a·diagnosis·of·exclusion·and·contorversy·exists·regarding·whether·the·presence·of·bulbar·symptoms,·sphincter·disturbances,·fasciculations·or·cognitive·manifestations·characterize·the·disease.</Contents> | 639745 | ··············<Contents>A·rare,·acquired·motor·neuron·disease·characterized·by·a·slowly·progressive,·unilateral,·ascending·or·descending·hemiplegia,·associated·to·unilateral·or·asymmetrical·pyramidal·signs·and·no·sensory·loss.·It·is·a·diagnosis·of·exclusion·and·controversy·exists·regarding·whether·the·presence·of·bulbar·symptoms,·sphincter·disturbances,·fasciculations·or·cognitive·manifestations·characterize·the·disease.</Contents> |
| 640187 | ············</TextSection> | 639746 | ············</TextSection> |
| 640188 | ··········</TextSectionList> | 639747 | ··········</TextSectionList> |
| 640189 | ········</SummaryInformation> | 639748 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 649478 | ········</SummaryInformation> | 649037 | ········</SummaryInformation> |
| 649479 | ······</SummaryInformationList> | 649038 | ······</SummaryInformationList> |
| 649480 | ····</Disorder> | 649039 | ····</Disorder> |
| | 649040 | ····<Disorder·id="29927"> |
| | 649041 | ······<OrphaCode>599480</OrphaCode> |
| | 649042 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599480</ExpertLink> |
| | 649043 | ······<Name·lang="en">Acquired·hemophilia·A</Name> |
| | 649044 | ······<DisorderFlagList·count="1"> |
| | 649045 | ········<DisorderFlag·id="475"> |
| | 649046 | ··········<Value>1</Value> |
| | 649047 | ··········<Label></Label> |
| | 649048 | ········</DisorderFlag> |
| | 649049 | ······</DisorderFlagList> |
| | 649050 | ······<SynonymList·count="1"> |
| | 649051 | ········<Synonym·lang="en">AHA</Synonym> |
| | 649052 | ······</SynonymList> |
| | 649053 | ······<DisorderType·id="21394"> |
| | 649054 | ········<Name·lang="en">Disease</Name> |
| | 649055 | ······</DisorderType> |
| | 649056 | ······<DisorderGroup·id="36547"> |
| | 649057 | ········<Name·lang="en">Disorder</Name> |
| | 649058 | ······</DisorderGroup> |
| | 649059 | ······<ExternalReferenceList·count="0"> |
| | 649060 | ······</ExternalReferenceList> |
| | 649061 | ······<DisorderDisorderAssociationList·count="0"> |
| | 649062 | ······</DisorderDisorderAssociationList> |
| | 649063 | ······<SummaryInformationList·count="0"> |
| | 649064 | ······</SummaryInformationList> |
| | 649065 | ····</Disorder> |
| | 649066 | ····<Disorder·id="29928"> |
| | 649067 | ······<OrphaCode>599485</OrphaCode> |
| | 649068 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599485</ExpertLink> |
| | 649069 | ······<Name·lang="en">Acquired·hemophilia·B</Name> |
| | 649070 | ······<DisorderFlagList·count="1"> |
| | 649071 | ········<DisorderFlag·id="475"> |
| | 649072 | ··········<Value>1</Value> |
| | 649073 | ··········<Label></Label> |
| | 649074 | ········</DisorderFlag> |
| | 649075 | ······</DisorderFlagList> |
| | 649076 | ······<SynonymList·count="1"> |
| | 649077 | ········<Synonym·lang="en">AHB</Synonym> |
| | 649078 | ······</SynonymList> |
| | 649079 | ······<DisorderType·id="21394"> |
| | 649080 | ········<Name·lang="en">Disease</Name> |
| | 649081 | ······</DisorderType> |
| | 649082 | ······<DisorderGroup·id="36547"> |
| | 649083 | ········<Name·lang="en">Disorder</Name> |
| | 649084 | ······</DisorderGroup> |
| | 649085 | ······<ExternalReferenceList·count="0"> |
| | 649086 | ······</ExternalReferenceList> |
| | 649087 | ······<DisorderDisorderAssociationList·count="0"> |
| | 649088 | ······</DisorderDisorderAssociationList> |
| | 649089 | ······<SummaryInformationList·count="0"> |
| | 649090 | ······</SummaryInformationList> |
| | 649091 | ····</Disorder> |
| 649481 | ····<Disorder·id="12328"> | 649092 | ····<Disorder·id="12328"> |
| 649482 | ······<OrphaCode>93406</OrphaCode> | 649093 | ······<OrphaCode>93406</OrphaCode> |
| 649483 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93406</ExpertLink> | 649094 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93406</ExpertLink> |
| ⋮ | ⋮ |
| 649585 | ········</SummaryInformation> | 649196 | ········</SummaryInformation> |
| 649586 | ······</SummaryInformationList> | 649197 | ······</SummaryInformationList> |
| 649587 | ····</Disorder> | 649198 | ····</Disorder> |
| | 649199 | ····<Disorder·id="29929"> |
| | 649200 | ······<OrphaCode>599490</OrphaCode> |
| | 649201 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599490</ExpertLink> |
| | 649202 | ······<Name·lang="en">Acquired·factor·V·deficiency</Name> |
| | 649203 | ······<DisorderFlagList·count="1"> |
| | 649204 | ········<DisorderFlag·id="475"> |
| | 649205 | ··········<Value>1</Value> |
| | 649206 | ··········<Label></Label> |
| | 649207 | ········</DisorderFlag> |
| | 649208 | ······</DisorderFlagList> |
| | 649209 | ······<SynonymList·count="0"> |
| | 649210 | ······</SynonymList> |
| | 649211 | ······<DisorderType·id="21394"> |
| | 649212 | ········<Name·lang="en">Disease</Name> |
| | 649213 | ······</DisorderType> |
| | 649214 | ······<DisorderGroup·id="36547"> |
| | 649215 | ········<Name·lang="en">Disorder</Name> |
| | 649216 | ······</DisorderGroup> |
| | 649217 | ······<ExternalReferenceList·count="0"> |
| | 649218 | ······</ExternalReferenceList> |
| | 649219 | ······<DisorderDisorderAssociationList·count="0"> |
| | 649220 | ······</DisorderDisorderAssociationList> |
| | 649221 | ······<SummaryInformationList·count="0"> |
| | 649222 | ······</SummaryInformationList> |
| | 649223 | ····</Disorder> |
| 649588 | ····<Disorder·id="12331"> | 649224 | ····<Disorder·id="12331"> |
| 649589 | ······<OrphaCode>93409</OrphaCode> | 649225 | ······<OrphaCode>93409</OrphaCode> |
| 649590 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93409</ExpertLink> | 649226 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93409</ExpertLink> |
| ⋮ | ⋮ |
| 649669 | ······<SummaryInformationList·count="0"> | 649305 | ······<SummaryInformationList·count="0"> |
| 649670 | ······</SummaryInformationList> | 649306 | ······</SummaryInformationList> |
| 649671 | ····</Disorder> | 649307 | ····</Disorder> |
| | 649308 | ····<Disorder·id="29931"> |
| | 649309 | ······<OrphaCode>599501</OrphaCode> |
| | 649310 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599501</ExpertLink> |
| | 649311 | ······<Name·lang="en">Acquired·factor·X·deficiency</Name> |
| | 649312 | ······<DisorderFlagList·count="1"> |
| | 649313 | ········<DisorderFlag·id="475"> |
| | 649314 | ··········<Value>1</Value> |
| | 649315 | ··········<Label></Label> |
| | 649316 | ········</DisorderFlag> |
| | 649317 | ······</DisorderFlagList> |
| | 649318 | ······<SynonymList·count="1"> |
| | 649319 | ········<Synonym·lang="en">aFX</Synonym> |
| | 649320 | ······</SynonymList> |
| | 649321 | ······<DisorderType·id="21394"> |
| | 649322 | ········<Name·lang="en">Disease</Name> |
| | 649323 | ······</DisorderType> |
| | 649324 | ······<DisorderGroup·id="36547"> |
| | 649325 | ········<Name·lang="en">Disorder</Name> |
| | 649326 | ······</DisorderGroup> |
| | 649327 | ······<ExternalReferenceList·count="0"> |
| | 649328 | ······</ExternalReferenceList> |
| | 649329 | ······<DisorderDisorderAssociationList·count="0"> |
| | 649330 | ······</DisorderDisorderAssociationList> |
| | 649331 | ······<SummaryInformationList·count="0"> |
| | 649332 | ······</SummaryInformationList> |
| | 649333 | ····</Disorder> |
| 649672 | ····<Disorder·id="12333"> | 649334 | ····<Disorder·id="12333"> |
| 649673 | ······<OrphaCode>93419</OrphaCode> | 649335 | ······<OrphaCode>93419</OrphaCode> |
| 649674 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93419</ExpertLink> | 649336 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93419</ExpertLink> |
| ⋮ | ⋮ |
| 649705 | ········</SummaryInformation> | 649367 | ········</SummaryInformation> |
| 649706 | ······</SummaryInformationList> | 649368 | ······</SummaryInformationList> |
| 649707 | ····</Disorder> | 649369 | ····</Disorder> |
| | 649370 | ····<Disorder·id="29932"> |
| | 649371 | ······<OrphaCode>599507</OrphaCode> |
| | 649372 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599507</ExpertLink> |
| | 649373 | ······<Name·lang="en">Acquired·factor·XI·deficiency</Name> |
| | 649374 | ······<DisorderFlagList·count="1"> |
| | 649375 | ········<DisorderFlag·id="475"> |
| | 649376 | ··········<Value>1</Value> |
| | 649377 | ··········<Label></Label> |
| | 649378 | ········</DisorderFlag> |
| | 649379 | ······</DisorderFlagList> |
| | 649380 | ······<SynonymList·count="1"> |
| | 649381 | ········<Synonym·lang="en">aFXI</Synonym> |
| | 649382 | ······</SynonymList> |
| | 649383 | ······<DisorderType·id="21394"> |
| | 649384 | ········<Name·lang="en">Disease</Name> |
| | 649385 | ······</DisorderType> |
| | 649386 | ······<DisorderGroup·id="36547"> |
| | 649387 | ········<Name·lang="en">Disorder</Name> |
| | 649388 | ······</DisorderGroup> |
| | 649389 | ······<ExternalReferenceList·count="0"> |
| | 649390 | ······</ExternalReferenceList> |
| | 649391 | ······<DisorderDisorderAssociationList·count="0"> |
| | 649392 | ······</DisorderDisorderAssociationList> |
| | 649393 | ······<SummaryInformationList·count="0"> |
| | 649394 | ······</SummaryInformationList> |
| | 649395 | ····</Disorder> |
| | 649396 | ····<Disorder·id="29933"> |
| | 649397 | ······<OrphaCode>599513</OrphaCode> |
| | 649398 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599513</ExpertLink> |
| | 649399 | ······<Name·lang="en">Acquired·factor·XIII·deficiency</Name> |
| | 649400 | ······<DisorderFlagList·count="1"> |
| | 649401 | ········<DisorderFlag·id="475"> |
| | 649402 | ··········<Value>1</Value> |
| | 649403 | ··········<Label></Label> |
| | 649404 | ········</DisorderFlag> |
| | 649405 | ······</DisorderFlagList> |
| | 649406 | ······<SynonymList·count="1"> |
| | 649407 | ········<Synonym·lang="en">aFXIII</Synonym> |
| | 649408 | ······</SynonymList> |
| | 649409 | ······<DisorderType·id="21394"> |
| | 649410 | ········<Name·lang="en">Disease</Name> |
| | 649411 | ······</DisorderType> |
| | 649412 | ······<DisorderGroup·id="36547"> |
| | 649413 | ········<Name·lang="en">Disorder</Name> |
| | 649414 | ······</DisorderGroup> |
| | 649415 | ······<ExternalReferenceList·count="0"> |
| | 649416 | ······</ExternalReferenceList> |
| | 649417 | ······<DisorderDisorderAssociationList·count="0"> |
| | 649418 | ······</DisorderDisorderAssociationList> |
| | 649419 | ······<SummaryInformationList·count="0"> |
| | 649420 | ······</SummaryInformationList> |
| | 649421 | ····</Disorder> |
| 649708 | ····<Disorder·id="12335"> | 649422 | ····<Disorder·id="12335"> |
| 649709 | ······<OrphaCode>93421</OrphaCode> | 649423 | ······<OrphaCode>93421</OrphaCode> |
| 649710 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93421</ExpertLink> | 649424 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93421</ExpertLink> |
| ⋮ | ⋮ |
| 649769 | ········</SummaryInformation> | 649483 | ········</SummaryInformation> |
| 649770 | ······</SummaryInformationList> | 649484 | ······</SummaryInformationList> |
| 649771 | ····</Disorder> | 649485 | ····</Disorder> |
| | 649486 | ····<Disorder·id="29935"> |
| | 649487 | ······<OrphaCode>599579</OrphaCode> |
| | 649488 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599579</ExpertLink> |
| | 649489 | ······<Name·lang="en">Factor·V·Amsterdam·bleeding·disorder</Name> |
| | 649490 | ······<DisorderFlagList·count="1"> |
| | 649491 | ········<DisorderFlag·id="475"> |
| | 649492 | ··········<Value>1</Value> |
| | 649493 | ··········<Label></Label> |
| | 649494 | ········</DisorderFlag> |
| | 649495 | ······</DisorderFlagList> |
| | 649496 | ······<SynonymList·count="0"> |
| | 649497 | ······</SynonymList> |
| | 649498 | ······<DisorderType·id="21443"> |
| | 649499 | ········<Name·lang="en">Etiological·subtype</Name> |
| | 649500 | ······</DisorderType> |
| | 649501 | ······<DisorderGroup·id="36554"> |
| | 649502 | ········<Name·lang="en">Subtype·of·disorder</Name> |
| | 649503 | ······</DisorderGroup> |
| | 649504 | ······<ExternalReferenceList·count="0"> |
| | 649505 | ······</ExternalReferenceList> |
| | 649506 | ······<DisorderDisorderAssociationList·count="0"> |
| | 649507 | ······</DisorderDisorderAssociationList> |
| | 649508 | ······<SummaryInformationList·count="0"> |
| | 649509 | ······</SummaryInformationList> |
| | 649510 | ····</Disorder> |
| 649772 | ····<Disorder·id="12336"> | 649511 | ····<Disorder·id="12336"> |
| 649773 | ······<OrphaCode>93422</OrphaCode> | 649512 | ······<OrphaCode>93422</OrphaCode> |
| 649774 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93422</ExpertLink> | 649513 | ······<ExpertLink·lang="en">http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93422</ExpertLink> |
| ⋮ | ⋮ |
| 655625 | ··········<Label></Label> | 655364 | ··········<Label></Label> |
| 655626 | ········</DisorderFlag> | 655365 | ········</DisorderFlag> |
| 655627 | ······</DisorderFlagList> | 655366 | ······</DisorderFlagList> |
| 655628 | ······<SynonymList·count="1"> | 655367 | ······<SynonymList·count="0"> |
| 655629 | ········<Synonym·lang="en">Nephrolithiasis·type·1</Synonym> | |
| 655630 | ······</SynonymList> | 655368 | ······</SynonymList> |
| 655631 | ······<DisorderType·id="21450"> | 655369 | ······<DisorderType·id="21450"> |
| 655632 | ········<Name·lang="en">Clinical·subtype</Name> | 655370 | ········<Name·lang="en">Clinical·subtype</Name> |
| ⋮ | ⋮ |
| 655772 | ··········<Label></Label> | 655510 | ··········<Label></Label> |
| 655773 | ········</DisorderFlag> | 655511 | ········</DisorderFlag> |
| 655774 | ······</DisorderFlagList> | 655512 | ······</DisorderFlagList> |
| 655775 | ······<SynonymList·count="1"> | 655513 | ······<SynonymList·count="0"> |
| 655776 | ········<Synonym·lang="en">Nephrolithiasis·type·2</Synonym> | |
| 655777 | ······</SynonymList> | 655514 | ······</SynonymList> |
| 655778 | ······<DisorderType·id="21450"> | 655515 | ······<DisorderType·id="21450"> |
| 655779 | ········<Name·lang="en">Clinical·subtype</Name> | 655516 | ········<Name·lang="en">Clinical·subtype</Name> |
| ⋮ | ⋮ |
| 658370 | ··············<TextSectionType·id="16907"> | 658107 | ··············<TextSectionType·id="16907"> |
| 658371 | ················<Name·lang="en">Definition</Name> | 658108 | ················<Name·lang="en">Definition</Name> |
| 658372 | ··············</TextSectionType> | 658109 | ··············</TextSectionType> |
| 658373 | ··············<Contents>Classic·Bartter·syndrome·is·a·type·of·Bartter·syndrome·(see·this·term),·characterized·by·a·milder·clinical·picture·than·the·antenatal/infantile·subtype,·and·presenting·with·failure·to·thrive,·hypokalemic·alkalosis,·increased·levels·of·plasma·renin·and·aldosterone,·low·blood·pressure·and·vascular·resistance·to·angiotensin·II.</Contents> | 658110 | ··············<Contents>A·form·of·Bartter·syndrome·characterized·by·a·later·age·at·onset·than·the·other·types·of·Bartter·syndrome,·typically·presenting·beyond·the·first·year·of·life·with·failure·to·thrive,·hypokalemic·and·hypochloremic·metabolic·alkalosis,·increased·levels·of·plasma·renin·and·aldosterone·and·low·to·normal·blood·pressure.</Contents> |
| 658374 | ············</TextSection> | 658111 | ············</TextSection> |
| 658375 | ··········</TextSectionList> | 658112 | ··········</TextSectionList> |
| 658376 | ········</SummaryInformation> | 658113 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 660244 | ··············<TextSectionType·id="16907"> | 659981 | ··············<TextSectionType·id="16907"> |
| 660245 | ················<Name·lang="en">Definition</Name> | 659982 | ················<Name·lang="en">Definition</Name> |
| 660246 | ··············</TextSectionType> | 659983 | ··············</TextSectionType> |
| 660247 | ··············<Contents>A·rare·vascular·anomaly·characterized·by·congenital·narrowing·of·the·inferior·vena·cava·mostly·at·the·diaphragmatic·level·or·hepatic·segment,·with·or·without·web·formation.·Patients·may·present·with·deep·vein·thrombosis·below·the·obstructed·segment,·lower·extremity·swellings,·pain,·and·varices,·abdominal·pain/varices,·or·hematochezia.·Presence·of·collateral·veins·between·upper·and·lower·segments·of·the·stenosis,·as·well·as·venous·aneurysms·are·typical·associated·findings.</Contents> | 659984 | ··············<Contents>A·rare·vascular·anomaly·characterized·by·congenital·narrowing·of·the·inferior·vena·cava·mostly·at·the·diaphragmatic·level·or·hepatic·segment,·with·or·without·web·formation.·Patients·may·present·with·deep·vein·thrombosis·below·the·obstructed·segment·as·well·as·swelling,·pain,·and·varices·of·the·lower·extremities,·abdominal·pain/varices,·or·hematochezia.·Presence·of·collateral·veins·between·upper·and·lower·segments·of·the·stenosis,·as·well·as·venous·aneurysms·are·typical·associated·findings.</Contents> |
| 660248 | ············</TextSection> | 659985 | ············</TextSection> |
| 660249 | ··········</TextSectionList> | 659986 | ··········</TextSectionList> |
| 660250 | ········</SummaryInformation> | 659987 | ········</SummaryInformation> |
| ⋮ | ⋮ |
| 683802 | ······</ExternalReferenceList> | 683539 | ······</ExternalReferenceList> |
| 683803 | ······<DisorderDisorderAssociationList·count="0"> | 683540 | ······<DisorderDisorderAssociationList·count="0"> |
| 683804 | ······</DisorderDisorderAssociationList> | 683541 | ······</DisorderDisorderAssociationList> |
| 683805 | ······<SummaryInformationList·count="1"> | 683542 | ······<SummaryInformationList·count="0"> |
| 683806 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 683807 | ··········<TextSectionList·count="0"> | |
| 683808 | ··········</TextSectionList> | |
| 683809 | ··········<TextAuto> | |
| 683810 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 683811 | ··········</TextAuto> | |
| 683812 | ········</SummaryInformation> | |
| 683813 | ······</SummaryInformationList> | 683543 | ······</SummaryInformationList> |
| 683814 | ····</Disorder> | 683544 | ····</Disorder> |
| 683815 | ····<Disorder·id="13694"> | 683545 | ····<Disorder·id="13694"> |
| ⋮ | ⋮ |
| 684312 | ······</ExternalReferenceList> | 684042 | ······</ExternalReferenceList> |
| 684313 | ······<DisorderDisorderAssociationList·count="0"> | 684043 | ······<DisorderDisorderAssociationList·count="0"> |
| 684314 | ······</DisorderDisorderAssociationList> | 684044 | ······</DisorderDisorderAssociationList> |
| 684315 | ······<SummaryInformationList·count="1"> | 684045 | ······<SummaryInformationList·count="0"> |
| 684316 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 684317 | ··········<TextSectionList·count="0"> | |
| 684318 | ··········</TextSectionList> | |
| 684319 | ··········<TextAuto> | |
| 684320 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 684321 | ··········</TextAuto> | |
| 684322 | ········</SummaryInformation> | |
| 684323 | ······</SummaryInformationList> | 684046 | ······</SummaryInformationList> |
| 684324 | ····</Disorder> | 684047 | ····</Disorder> |
| 684325 | ····<Disorder·id="13686"> | 684048 | ····<Disorder·id="13686"> |
| ⋮ | ⋮ |
| 684709 | ······</ExternalReferenceList> | 684432 | ······</ExternalReferenceList> |
| 684710 | ······<DisorderDisorderAssociationList·count="0"> | 684433 | ······<DisorderDisorderAssociationList·count="0"> |
| 684711 | ······</DisorderDisorderAssociationList> | 684434 | ······</DisorderDisorderAssociationList> |
| 684712 | ······<SummaryInformationList·count="1"> | 684435 | ······<SummaryInformationList·count="0"> |
| 684713 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 684714 | ··········<TextSectionList·count="0"> | |
| 684715 | ··········</TextSectionList> | |
| 684716 | ··········<TextAuto> | |
| 684717 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 684718 | ··········</TextAuto> | |
| 684719 | ········</SummaryInformation> | |
| 684720 | ······</SummaryInformationList> | 684436 | ······</SummaryInformationList> |
| 684721 | ····</Disorder> | 684437 | ····</Disorder> |
| 684722 | ····<Disorder·id="13675"> | 684438 | ····<Disorder·id="13675"> |
| ⋮ | ⋮ |
| 686731 | ······</ExternalReferenceList> | 686447 | ······</ExternalReferenceList> |
| 686732 | ······<DisorderDisorderAssociationList·count="0"> | 686448 | ······<DisorderDisorderAssociationList·count="0"> |
| 686733 | ······</DisorderDisorderAssociationList> | 686449 | ······</DisorderDisorderAssociationList> |
| 686734 | ······<SummaryInformationList·count="1"> | 686450 | ······<SummaryInformationList·count="0"> |
| 686735 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 686736 | ··········<TextSectionList·count="0"> | |
| 686737 | ··········</TextSectionList> | |
| 686738 | ··········<TextAuto> | |
| 686739 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 686740 | ··········</TextAuto> | |
| 686741 | ········</SummaryInformation> | |
| 686742 | ······</SummaryInformationList> | 686451 | ······</SummaryInformationList> |
| 686743 | ····</Disorder> | 686452 | ····</Disorder> |
| 686744 | ····<Disorder·id="29044"> | 686453 | ····<Disorder·id="29044"> |
| ⋮ | ⋮ |
| 697020 | ··········</DisorderDisorderAssociationType> | 696729 | ··········</DisorderDisorderAssociationType> |
| 697021 | ········</DisorderDisorderAssociation> | 696730 | ········</DisorderDisorderAssociation> |
| 697022 | ······</DisorderDisorderAssociationList> | 696731 | ······</DisorderDisorderAssociationList> |
| 697023 | ······<SummaryInformationList·count="1"> | 696732 | ······<SummaryInformationList·count="0"> |
| 697024 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 697025 | ··········<TextSectionList·count="0"> | |
| 697026 | ··········</TextSectionList> | |
| 697027 | ··········<TextAuto> | |
| 697028 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 697029 | ··········</TextAuto> | |
| 697030 | ········</SummaryInformation> | |
| 697031 | ······</SummaryInformationList> | 696733 | ······</SummaryInformationList> |
| 697032 | ····</Disorder> | 696734 | ····</Disorder> |
| 697033 | ····<Disorder·id="13503"> | 696735 | ····<Disorder·id="13503"> |
| ⋮ | ⋮ |
| 697273 | ······</ExternalReferenceList> | 696975 | ······</ExternalReferenceList> |
| 697274 | ······<DisorderDisorderAssociationList·count="0"> | 696976 | ······<DisorderDisorderAssociationList·count="0"> |
| 697275 | ······</DisorderDisorderAssociationList> | 696977 | ······</DisorderDisorderAssociationList> |
| 697276 | ······<SummaryInformationList·count="1"> | 696978 | ······<SummaryInformationList·count="0"> |
| 697277 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 697278 | ··········<TextSectionList·count="0"> | |
| 697279 | ··········</TextSectionList> | |
| 697280 | ··········<TextAuto> | |
| 697281 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 697282 | ··········</TextAuto> | |
| 697283 | ········</SummaryInformation> | |
| 697284 | ······</SummaryInformationList> | 696979 | ······</SummaryInformationList> |
| 697285 | ····</Disorder> | 696980 | ····</Disorder> |
| 697286 | ····<Disorder·id="13445"> | 696981 | ····<Disorder·id="13445"> |
| ⋮ | ⋮ |
| 703807 | ······</ExternalReferenceList> | 703502 | ······</ExternalReferenceList> |
| 703808 | ······<DisorderDisorderAssociationList·count="0"> | 703503 | ······<DisorderDisorderAssociationList·count="0"> |
| 703809 | ······</DisorderDisorderAssociationList> | 703504 | ······</DisorderDisorderAssociationList> |
| 703810 | ······<SummaryInformationList·count="1"> | 703505 | ······<SummaryInformationList·count="0"> |
| 703811 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 703812 | ··········<TextSectionList·count="0"> | |
| 703813 | ··········</TextSectionList> | |
| 703814 | ··········<TextAuto> | |
| 703815 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 703816 | ··········</TextAuto> | |
| 703817 | ········</SummaryInformation> | |
| 703818 | ······</SummaryInformationList> | 703506 | ······</SummaryInformationList> |
| 703819 | ····</Disorder> | 703507 | ····</Disorder> |
| 703820 | ····<Disorder·id="14950"> | 703508 | ····<Disorder·id="14950"> |
| ⋮ | ⋮ |
| 703852 | ······</ExternalReferenceList> | 703540 | ······</ExternalReferenceList> |
| 703853 | ······<DisorderDisorderAssociationList·count="0"> | 703541 | ······<DisorderDisorderAssociationList·count="0"> |
| 703854 | ······</DisorderDisorderAssociationList> | 703542 | ······</DisorderDisorderAssociationList> |
| 703855 | ······<SummaryInformationList·count="1"> | 703543 | ······<SummaryInformationList·count="0"> |
| 703856 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 703857 | ··········<TextSectionList·count="0"> | |
| 703858 | ··········</TextSectionList> | |
| 703859 | ··········<TextAuto> | |
| 703860 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 703861 | ··········</TextAuto> | |
| 703862 | ········</SummaryInformation> | |
| 703863 | ······</SummaryInformationList> | 703544 | ······</SummaryInformationList> |
| 703864 | ····</Disorder> | 703545 | ····</Disorder> |
| 703865 | ····<Disorder·id="14957"> | 703546 | ····<Disorder·id="14957"> |
| ⋮ | ⋮ |
| 712607 | ······</ExternalReferenceList> | 712288 | ······</ExternalReferenceList> |
| 712608 | ······<DisorderDisorderAssociationList·count="0"> | 712289 | ······<DisorderDisorderAssociationList·count="0"> |
| 712609 | ······</DisorderDisorderAssociationList> | 712290 | ······</DisorderDisorderAssociationList> |
| 712610 | ······<SummaryInformationList·count="1"> | 712291 | ······<SummaryInformationList·count="0"> |
| 712611 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 712612 | ··········<TextSectionList·count="0"> | |
| 712613 | ··········</TextSectionList> | |
| 712614 | ··········<TextAuto> | |
| 712615 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 712616 | ··········</TextAuto> | |
| 712617 | ········</SummaryInformation> | |
| 712618 | ······</SummaryInformationList> | 712292 | ······</SummaryInformationList> |
| 712619 | ····</Disorder> | 712293 | ····</Disorder> |
| 712620 | ····<Disorder·id="14663"> | 712294 | ····<Disorder·id="14663"> |
| ⋮ | ⋮ |
| 712649 | ··········</DisorderDisorderAssociationType> | 712323 | ··········</DisorderDisorderAssociationType> |
| 712650 | ········</DisorderDisorderAssociation> | 712324 | ········</DisorderDisorderAssociation> |
| 712651 | ······</DisorderDisorderAssociationList> | 712325 | ······</DisorderDisorderAssociationList> |
| 712652 | ······<SummaryInformationList·count="1"> | 712326 | ······<SummaryInformationList·count="0"> |
| 712653 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 712654 | ··········<TextSectionList·count="0"> | |
| 712655 | ··········</TextSectionList> | |
| 712656 | ··········<TextAuto> | |
| 712657 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 712658 | ··········</TextAuto> | |
| 712659 | ········</SummaryInformation> | |
| 712660 | ······</SummaryInformationList> | 712327 | ······</SummaryInformationList> |
| 712661 | ····</Disorder> | 712328 | ····</Disorder> |
| 712662 | ····<Disorder·id="14662"> | 712329 | ····<Disorder·id="14662"> |
| ⋮ | ⋮ |
| 714539 | ······</ExternalReferenceList> | 714206 | ······</ExternalReferenceList> |
| 714540 | ······<DisorderDisorderAssociationList·count="0"> | 714207 | ······<DisorderDisorderAssociationList·count="0"> |
| 714541 | ······</DisorderDisorderAssociationList> | 714208 | ······</DisorderDisorderAssociationList> |
| 714542 | ······<SummaryInformationList·count="1"> | 714209 | ······<SummaryInformationList·count="0"> |
| 714543 | ········<SummaryInformation·id="-1"·lang="en"> | |
| 714544 | ··········<TextSectionList·count="0"> | |
| 714545 | ··········</TextSectionList> | |
| 714546 | ··········<TextAuto> | |
| 714547 | ············<Info·lang="en">This·term·does·not·characterize·a·disease·but·a·group·of·diseases.·To·learn·about·the·diseases·included·under·this·term,·you·can·consult·the·classifications.</Info> | |
| 714548 | ··········</TextAuto> | |
| 714549 | ········</SummaryInformation> | |
| 714550 | ······</SummaryInformationList> | 714210 | ······</SummaryInformationList> |
| 714551 | ····</Disorder> | 714211 | ····</Disorder> |
| 714552 | ····<Disorder·id="14649"> | 714212 | ····<Disorder·id="14649"> |